NM_002524.5(NRAS):c.442A>G (p.Thr148Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 4, 2018
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:: RCV000158988.1

Allele description [Variation Report for NM_002524.5(NRAS):c.442A>G (p.Thr148Ala)]

NM_002524.5(NRAS):c.442A>G (p.Thr148Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

Preferred name:

NM_002524.5(NRAS):c.442A>G (p.Thr148Ala)

Other names:

p.T148A:ACC>GCC

HGVS:

NC_000001.11:g.114709577T>C
NG_007572.1:g.12318A>G
NM_002524.5:c.442A>GMANE SELECT
NP_002515.1:p.Thr148Ala
LRG_92t1:c.442A>G
LRG_92:g.12318A>G
NC_000001.10:g.115252198T>C
NM_002524.3:c.442A>G

Protein change:

T148A

Links:

dbSNP: rs730880969

NCBI 1000 Genomes Browser:

rs730880969

Molecular consequence:

NM_002524.5:c.442A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000208927	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 4, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000208927

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 4, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000208927.11

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

Description

The T148A variant in the NRAS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T148A variant is not observed in large population cohorts (Lek et al., 2016). The T148A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014). We interpret T148A as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022

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