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NM_015469.3(NIPSNAP3A):c.187C>T (p.Arg63Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 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:
RCV004493096.1

Allele description [Variation Report for NM_015469.3(NIPSNAP3A):c.187C>T (p.Arg63Trp)]

NM_015469.3(NIPSNAP3A):c.187C>T (p.Arg63Trp)

Gene:
NIPSNAP3A:nipsnap homolog 3A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_015469.3(NIPSNAP3A):c.187C>T (p.Arg63Trp)
HGVS:
  • NC_000009.12:g.104751082C>T
  • NM_001329570.2:c.187C>T
  • NM_015469.3:c.187C>TMANE SELECT
  • NP_001316499.1:p.Arg63Trp
  • NP_056284.1:p.Arg63Trp
  • NC_000009.11:g.107513363C>T
  • NM_015469.1:c.187C>T
Protein change:
R63W
Molecular consequence:
  • NM_001329570.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015469.3:c.187C>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
SCV004992135Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 2, 2024) 		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, SCV004992135.1

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

Description

The c.187C>T (p.R63W) alteration is located in exon 2 (coding exon 2) of the NIPSNAP3A gene. This alteration results from a C to T substitution at nucleotide position 187, causing the arginine (R) at amino acid position 63 to be replaced by a tryptophan (W). 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: May 7, 2024