NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys) AND Congenital bile acid synthesis defect 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 12, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001839065.2

Allele description [Variation Report for NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys)]

NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys)

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.1031A>G (p.Tyr344Cys)

HGVS:

NC_000016.10:g.30988104A>G
NG_012346.1:g.7907A>G
NG_041829.1:g.27405T>C
NM_001142777.2:c.*277A>G
NM_001142778.2:c.*277A>G
NM_025193.4:c.1031A>GMANE SELECT
NP_079469.2:p.Tyr344Cys
NC_000016.9:g.30999425A>G

Protein change:

Y344C

Links:

dbSNP: rs907386068

NCBI 1000 Genomes Browser:

rs907386068

Molecular consequence:

NM_001142777.2:c.*277A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142778.2:c.*277A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_025193.4:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Congenital bile acid synthesis defect 1 (CBAS1)
Synonyms:: 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of; 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
Identifiers:: MONDO: MONDO:0011906; MedGen: C1843116; Orphanet: 79301; OMIM: 607765

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002098957	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Mar 1, 2021)	inherited	clinical testing	Citation Link,
SCV002783786	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 12, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002098957

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Mar 1, 2021)

inherited

clinical testing

Citation Link,

SCV002783786

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 12, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	unknown	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002098957.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	unknown	1	not provided	not provided		1	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002783786.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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