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NM_001350978.3(SPATA31C2):c.2861A>T (p.His954Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 13, 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:
RCV004098396.1

Allele description [Variation Report for NM_001350978.3(SPATA31C2):c.2861A>T (p.His954Leu)]

NM_001350978.3(SPATA31C2):c.2861A>T (p.His954Leu)

Gene:
SPATA31C2:SPATA31 subfamily C member 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.1
Genomic location:
Preferred name:
NM_001350978.3(SPATA31C2):c.2861A>T (p.His954Leu)
HGVS:
  • NC_000009.12:g.88130176T>A
  • NM_001166137.1:c.2861A>T
  • NM_001350978.3:c.2861A>TMANE SELECT
  • NP_001159609.1:p.His954Leu
  • NP_001337907.1:p.His954Leu
  • NC_000009.11:g.90745091T>A
Protein change:
H954L
Molecular consequence:
  • NM_001166137.1:c.2861A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350978.3:c.2861A>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
SCV003563113Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 13, 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, SCV003563113.2

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

Description

The c.2861A>T (p.H954L) alteration is located in exon 4 (coding exon 4) of the SPATA31C2 gene. This alteration results from a A to T substitution at nucleotide position 2861, causing the histidine (H) at amino acid position 954 to be replaced by a leucine (L). 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