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NM_024835.5(GGNBP2):c.1187C>T (p.Ala396Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2021
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:
RCV004206505.1

Allele description [Variation Report for NM_024835.5(GGNBP2):c.1187C>T (p.Ala396Val)]

NM_024835.5(GGNBP2):c.1187C>T (p.Ala396Val)

Gene:
GGNBP2:gametogenetin binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_024835.5(GGNBP2):c.1187C>T (p.Ala396Val)
HGVS:
  • NC_000017.11:g.36581510C>T
  • NM_024835.5:c.1187C>TMANE SELECT
  • NP_079111.1:p.Ala396Val
  • NC_000017.10:g.34937940C>T
  • NM_024835.3:c.1187C>T
Protein change:
A396V
Molecular consequence:
  • NM_024835.5:c.1187C>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
SCV003700074Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 11, 2021) 		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, SCV003700074.2

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

Description

The c.1187C>T (p.A396V) alteration is located in exon 9 (coding exon 8) of the GGNBP2 gene. This alteration results from a C to T substitution at nucleotide position 1187, causing the alanine (A) at amino acid position 396 to be replaced by a valine (V). 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: Nov 10, 2024