NM_006506.5(RASA2):c.1697T>C (p.Met566Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 5, 2024
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:: RCV004516886.1

Allele description [Variation Report for NM_006506.5(RASA2):c.1697T>C (p.Met566Thr)]

NM_006506.5(RASA2):c.1697T>C (p.Met566Thr)

Gene:

RASA2:RAS p21 protein activator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q23

Genomic location:

Preferred name:

NM_006506.5(RASA2):c.1697T>C (p.Met566Thr)

HGVS:

NC_000003.12:g.141581122T>C
NG_042187.1:g.99076T>C
NM_001303245.3:c.1697T>C
NM_001303246.3:c.1697T>C
NM_006506.5:c.1697T>CMANE SELECT
NP_001290174.1:p.Met566Thr
NP_001290175.1:p.Met566Thr
NP_006497.2:p.Met566Thr
NC_000003.11:g.141299964T>C
NM_006506.2:c.1697T>C

Protein change:

M566T

Molecular consequence:

NM_001303245.3:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001303246.3:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006506.5:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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MISAG Single Amplified Genome sample from Desulfovibrio sp. OttesenSCG-928-M14
MISAG Single Amplified Genome sample from Desulfovibrio sp. OttesenSCG-928-M14

biosample
RNA-binding protein 10 isoform X7 [Homo sapiens]
RNA-binding protein 10 isoform X7 [Homo sapiens]
gi|2462631263|ref|XP_054183916.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005024915	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005024915

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 5, 2024)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV005024915.1

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

Description

The p.M566T variant (also known as c.1697T>C), located in coding exon 17 of the RASA2 gene, results from a T to C substitution at nucleotide position 1697. The methionine at codon 566 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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