NM_004985.5(KRAS):c.331A>G (p.Met111Val) AND RASopathy

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003654801.1

Allele description

NM_004985.5(KRAS):c.331A>G (p.Met111Val)

Gene:

KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_004985.5(KRAS):c.331A>G (p.Met111Val)

HGVS:

NC_000012.12:g.25225733T>C
NG_007524.2:g.30271A>G
NM_001369786.1:c.331A>G
NM_001369787.1:c.331A>G
NM_004985.5:c.331A>GMANE SELECT
NM_033360.4:c.331A>G
NP_001356715.1:p.Met111Val
NP_001356716.1:p.Met111Val
NP_004976.2:p.Met111Val
NP_203524.1:p.Met111Val
LRG_344t1:c.331A>G
LRG_344t2:c.331A>G
LRG_344:g.30271A>G
LRG_344p1:p.Met111Val
LRG_344p2:p.Met111Val
NC_000012.11:g.25378667T>C

Protein change:

M111V

Molecular consequence:

NM_001369786.1:c.331A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369787.1:c.331A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004985.5:c.331A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033360.4:c.331A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: RASopathy
Synonyms:: rasopathies; Noonan spectrum disorder
Identifiers:: MONDO: MONDO:0021060; MedGen: C5555857

Recent activity

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MAG: Spirochaetia bacterium isolate Bin_58_12, whole genome shotgun sequencing p...
MAG: Spirochaetia bacterium isolate Bin_58_12, whole genome shotgun sequencing project
gi|1797426188|gb|VFLI00000000.1|VFL 0000

Nucleotide
galnt1 [Rhincodon typus]
galnt1 [Rhincodon typus]
Gene ID:109934734

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004537845	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004537845

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 30, 2023)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004537845.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KRAS protein function. This variant has not been reported in the literature in individuals affected with KRAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 111 of the KRAS protein (p.Met111Val). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 28, 2024

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