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NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 17, 2023
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:
RCV001206762.6

Allele description [Variation Report for NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)]

NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)

Gene:
HSD3B2:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
HGVS:
  • NC_000001.11:g.119422432C>T
  • NG_013349.1:g.12502C>T
  • NM_000198.4:c.931C>TMANE SELECT
  • NM_001166120.2:c.931C>T
  • NP_000189.1:p.Gln311Ter
  • NP_001159592.1:p.Gln311Ter
  • NC_000001.10:g.119965055C>T
  • NM_000198.3:c.931C>T
Protein change:
Q311*
Links:
dbSNP: rs781213951
NCBI 1000 Genomes Browser:
rs781213951
Molecular consequence:
  • NM_000198.4:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166120.2:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001378086Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Aug 17, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, et al.

Genome Biol. 2016 Nov 29;17(1):243.

PubMed [citation]
PMID:
27899157
PMCID:
PMC5126855

Adrenarche unmasks compound heterozygous 3β-hydroxysteroid dehydrogenase deficiency: c.244G>A (p.Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY.

Teasdale SL, Morton A.

J Pediatr Endocrinol Metab. 2017 Mar 1;30(3):355-360. doi: 10.1515/jpem-2016-0348.

PubMed [citation]
PMID:
28207417
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001378086.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This premature translational stop signal has been observed in individual(s) with congenital adrenal hyperplasia or an unspecified disorder of sexual development (PMID: 27899157, 28207417). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the HSD3B2 protein, which has been demonstrated to be critical for enzymatic activity (PMID: 1825279). While functional studies have not been performed to directly test the effect of this variant on HSD3B2 protein function, this suggests that disruption of this region of the protein is causative of disease. ClinVar contains an entry for this variant (Variation ID: 937691). This variant is present in population databases (rs781213951, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln311*) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the HSD3B2 protein.

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

Last Updated: Sep 29, 2024