KIT NM_000222.3(KIT):c.840_925+649del

CI-VAR-00168686Explore in graph →NM_000222.3:c.840_925+649delClinVar 958702 rs1720606396

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
958702	Likely pathogenic	criteria provided, single submitter	1	Gastrointestinal stromal tumor	germline	1	Aug 05, 2019	clinvar

Nomenclature

Record

Gene: KIT
Type: Deletion
HGVS c.: NM_000222.3:c.840_925+649del
Assembly: GRCh38
Position: chr4:54703799-54704534
Ref / Alt: AGTTCAGCGAGAGTTAATGATTCTGGAGTGTTCATGTGTTATGCCAATAATACTTTTGGATCAGCAAATGTCACAACAACCTTGGAAGTAGTAGGTAAATACCTCTATGGGAATGTTTAAATTACTGGCAGTAGTGAAAGAAGAAATTATTAGACAGTTTCTTTTTTATGTAAATGGAATGTTGAACAGATTCTTAGAATTTTGTTATCACTGAATGAATGAAAATTATCCTTGTAGCCTCTTGCAATGAAAGCACAAAACCAAATTCTACCAGTTTAGTGGAGGAAAGTGGAAAGCTGTTACTAAAATTGTTCAAACCTATTATTCTTTGTGCACCTCACCCTCCTTTCCCCACCAAACAAAACATAAGTTGAGATTTTTCAAAAATGCTAGTGCTCGCTGAATGACTTGAGTTTGGAAATGGATGTAGAATTTATCAAGGAACACAAATGCTTAGAGCCTGAAGTATTTCTCTGAAACTTTTGGTAGGGGCTGTGCCCCTTGGTTTATTGTTTTGCCACTCATCAGATCTAGTTCCTTCTAGTAAGGACTGAATTGGACTTTTCCTCCCTAGTATTCCCTACCTCCTTATCTCACCTGTTCTCTAAGCATAAAGATTATAGCATAAACCTTCAGGAAGGAGTGCCATTGGGACACAGGTCATTGGTTCTACGGAGCATAAACTACAACATGGTAATCTGTCCCCGGACCCCATCATATCTGGTATGCACAATTG → A

Per-assembly coordinates

stop
54704534
start
54703800
source
clinvar
assembly
GRCh38