NM_002890.3(RASA1):c.1198A>G (p.Lys400Glu) AND Basal cell carcinoma, somatic

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 1993
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000017368.13

Allele description [Variation Report for NM_002890.3(RASA1):c.1198A>G (p.Lys400Glu)]

NM_002890.3(RASA1):c.1198A>G (p.Lys400Glu)

Genes:

RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.3

Genomic location:

Preferred name:

NM_002890.3(RASA1):c.1198A>G (p.Lys400Glu)

Other names:

K400G

HGVS:

NC_000005.10:g.87349309A>G
NG_011650.1:g.85976A>G
NM_001364075.2:c.934-36514T>C
NM_002890.3:c.1198A>GMANE SELECT
NM_022650.3:c.667A>G
NP_002881.1:p.Lys400Glu
NP_072179.1:p.Lys223Glu
NC_000005.9:g.86645126A>G
P20936:p.Lys400Glu

Protein change:

K223E; LYS400GLY

Links:

UniProtKB: P20936#VAR_002651; OMIM: 139150.0002; dbSNP: rs137853215

NCBI 1000 Genomes Browser:

rs137853215

Molecular consequence:

NM_001364075.2:c.934-36514T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_002890.3:c.1198A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022650.3:c.667A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Basal cell carcinoma, somatic
Identifiers:: MedGen: C3838465

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037640	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1993)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037640

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1993)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours.

Friedman E, Gejman PV, Martin GA, McCormick F.

Nat Genet. 1993 Nov;5(3):242-7.

PubMed [citation]

PMID:: 8275088

Details of each submission

From OMIM, SCV000037640.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Using DGGE and direct sequence analysis, Friedman et al. (1993) screened a basal cell carcinoma tumor and identified a missense mutation in the SH2 domain of GAP. A change in codon 400 from AAA to GAA resulted in substitution of glycine for lysine.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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