NM_006506.5(RASA2):c.876_877delinsTT (p.Gln292_Pro293delinsHisSer) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 22, 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:: RCV003828471.2

Allele description [Variation Report for NM_006506.5(RASA2):c.876_877delinsTT (p.Gln292_Pro293delinsHisSer)]

NM_006506.5(RASA2):c.876_877delinsTT (p.Gln292_Pro293delinsHisSer)

Gene:

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

Variant type:

Indel

Cytogenetic location:

3q23

Genomic location:

Preferred name:

NM_006506.5(RASA2):c.876_877delinsTT (p.Gln292_Pro293delinsHisSer)

HGVS:

NC_000003.12:g.141570924_141570925delinsTT
NG_042187.1:g.88878_88879delinsTT
NM_001303245.3:c.876_877delinsTT
NM_001303246.3:c.876_877delinsTT
NM_006506.5:c.876_877delinsTTMANE SELECT
NP_001290174.1:p.Gln292_Pro293delinsHisSer
NP_001290175.1:p.Gln292_Pro293delinsHisSer
NP_006497.2:p.Gln292_Pro293delinsHisSer
NC_000003.11:g.141289766_141289767delinsTT

Molecular consequence:

NM_001303245.3:c.876_877delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001303246.3:c.876_877delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_006506.5:c.876_877delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens olfactory receptor, family 51, subfamily B, member 4, mRNA (cDNA cl...
Homo sapiens olfactory receptor, family 51, subfamily B, member 4, mRNA (cDNA clone MGC:95369 IMAGE:7216908), complete cds
gi|46575737|gb|BC069094.1|

Nucleotide
PREDICTED: Homo sapiens N-acetylglucosamine-1-phosphate transferase subunits alp...
PREDICTED: Homo sapiens N-acetylglucosamine-1-phosphate transferase subunits alpha and beta (GNPTAB), transcript variant X1, mRNA
gi|2462534337|ref|XM_054373202.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004623787	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 22, 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

SCV004623787

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 22, 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004623787.1

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

Description

This variant, c.876_877delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the RASA2 protein (p.Gln292_Pro293delinsHisSer). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with RASA2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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: Sep 29, 2024

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