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NM_025193.4(HSD3B7):c.671T>C (p.Val224Ala) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 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:
RCV004024860.1

Allele description [Variation Report for NM_025193.4(HSD3B7):c.671T>C (p.Val224Ala)]

NM_025193.4(HSD3B7):c.671T>C (p.Val224Ala)

Gene:
HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_025193.4(HSD3B7):c.671T>C (p.Val224Ala)
HGVS:
  • NC_000016.10:g.30986979T>C
  • NG_012346.1:g.6782T>C
  • NM_001142777.2:c.531+275T>C
  • NM_001142778.2:c.531+275T>C
  • NM_025193.3:c.671T>C
  • NM_025193.4:c.671T>CMANE SELECT
  • NP_079469.2:p.Val224Ala
  • NC_000016.9:g.30998300T>C
Protein change:
V224A
Links:
dbSNP: rs750327663
NCBI 1000 Genomes Browser:
rs750327663
Molecular consequence:
  • NM_001142777.2:c.531+275T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142778.2:c.531+275T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_025193.4:c.671T>C - 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
SCV004882708Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 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, SCV004882708.1

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

Description

The c.671T>C (p.V224A) alteration is located in exon 6 (coding exon 5) of the HSD3B7 gene. This alteration results from a T to C substitution at nucleotide position 671, causing the valine (V) at amino acid position 224 to be replaced by an alanine (A). 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