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NM_024867.4(SPEF2):c.1010G>A (p.Arg337Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2022
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:
RCV002965681.2

Allele description [Variation Report for NM_024867.4(SPEF2):c.1010G>A (p.Arg337Gln)]

NM_024867.4(SPEF2):c.1010G>A (p.Arg337Gln)

Gene:
SPEF2:sperm flagellar 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_024867.4(SPEF2):c.1010G>A (p.Arg337Gln)
HGVS:
  • NC_000005.10:g.35659050G>A
  • NM_024867.4:c.1010G>AMANE SELECT
  • NM_144722.4:c.1010G>A
  • NP_079143.3:p.Arg337Gln
  • NP_653323.1:p.Arg337Gln
  • NC_000005.9:g.35659152G>A
  • NM_024867.3:c.1010G>A
Protein change:
R337Q
Molecular consequence:
  • NM_024867.4:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144722.4:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003697856Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 22, 2022) 		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, SCV003697856.2

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

Description

The c.1010G>A (p.R337Q) alteration is located in exon 8 (coding exon 8) of the SPEF2 gene. This alteration results from a G to A substitution at nucleotide position 1010, causing the arginine (R) at amino acid position 337 to be replaced by a glutamine (Q). 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 1, 2024