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NM_080491.3(GAB2):c.754C>T (p.Pro252Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 6, 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:
RCV004284942.1

Allele description [Variation Report for NM_080491.3(GAB2):c.754C>T (p.Pro252Ser)]

NM_080491.3(GAB2):c.754C>T (p.Pro252Ser)

Genes:
GAB2:GRB2 associated binding protein 2 [Gene - OMIM - HGNC]
USP35:ubiquitin specific peptidase 35 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.1
Genomic location:
Preferred name:
NM_080491.3(GAB2):c.754C>T (p.Pro252Ser)
HGVS:
  • NC_000011.10:g.78226918G>A
  • NG_016171.1:g.195905C>T
  • NG_016171.2:g.195902C>T
  • NM_012296.4:c.640C>T
  • NM_080491.3:c.754C>TMANE SELECT
  • NP_036428.1:p.Pro214Ser
  • NP_536739.1:p.Pro252Ser
  • NC_000011.9:g.77937964G>A
  • NM_080491.2:c.754C>T
Protein change:
P214S
Molecular consequence:
  • NM_012296.4:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080491.3:c.754C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003909146Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003909146.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.754C>T (p.P252S) alteration is located in exon 4 (coding exon 4) of the GAB2 gene. This alteration results from a C to T substitution at nucleotide position 754, causing the proline (P) at amino acid position 252 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024