NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser) AND SRD5A3-congenital disorder of glycosylation

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 11, 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:: RCV003111736.5

Allele description [Variation Report for NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)]

NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)

Gene:

SRD5A3:steroid 5 alpha-reductase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)

HGVS:

NC_000004.12:g.55359431C>T
NG_028230.1:g.18211C>T
NM_001410732.1:c.307C>T
NM_024592.4:c.307C>T
NM_024592.5:c.307C>TMANE SELECT
NP_001397661.1:p.Pro103Ser
NP_078868.1:p.Pro103Ser
NC_000004.11:g.56225598C>T

Protein change:

P103S

Molecular consequence:

NM_001410732.1:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024592.5:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SRD5A3-congenital disorder of glycosylation
Synonyms:: CDG Iq; COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES; Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012885; MedGen: C4317224; Orphanet: 324737; OMIM: 612379

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003787527	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 11, 2022)	germline	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

SCV003787527

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 11, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003787527.3

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

Description

Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SRD5A3-related conditions. This variant is present in population databases (rs767876488, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 103 of the SRD5A3 protein (p.Pro103Ser). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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