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NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter) AND SPEF2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 2, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003903964.2

Allele description [Variation Report for NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter)]

NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter)

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.1795C>T (p.Gln599Ter)
HGVS:
  • NC_000005.10:g.35692620C>T
  • NM_024867.4:c.1795C>TMANE SELECT
  • NP_079143.3:p.Gln599Ter
  • NC_000005.9:g.35692722C>T
  • NM_024867.3:c.1795C>T
Protein change:
Q599*
Molecular consequence:
  • NM_024867.4:c.1795C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
SPEF2-related disorder
Synonyms:
SPEF2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004720711PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(May 2, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004720711.2

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

Description

The SPEF2 c.1795C>T variant is predicted to result in premature protein termination (p.Gln599*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in SPEF2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024