NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 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:: RCV003850560.2

Allele description [Variation Report for NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser)]

NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser)

Gene:

GABRB1:gamma-aminobutyric acid type A receptor subunit beta1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p12

Genomic location:

Preferred name:

NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser)

HGVS:

NC_000004.12:g.47425812C>T
NG_051831.1:g.399535C>T
NG_051831.2:g.437167C>T
NM_000812.4:c.1219C>TMANE SELECT
NP_000803.2:p.Pro407Ser
NC_000004.11:g.47427829C>T

Protein change:

P407S

Molecular consequence:

NM_000812.4:c.1219C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Transcription factor efl-2 [Caenorhabditis elegans]
Transcription factor efl-2 [Caenorhabditis elegans]
gi|193205169|ref|NP_001122658.1|

Protein
ABC transmembrane type-1 domain-containing protein [Caenorhabditis elegans]
ABC transmembrane type-1 domain-containing protein [Caenorhabditis elegans]
gi|1972227067|ref|NP_001380172.1|

Protein
helix-turn-helix domain-containing protein [Bacillus sp. SN1]
helix-turn-helix domain-containing protein [Bacillus sp. SN1]
gi|1280951784|ref|WP_100275119.1|

Protein
charged multivesicular body protein 3 isoform 1 [Mus musculus]
charged multivesicular body protein 3 isoform 1 [Mus musculus]
gi|31541959|ref|NP_080059.2|

Protein
SPK domain-containing protein [Caenorhabditis elegans]
SPK domain-containing protein [Caenorhabditis elegans]
gi|17507281|ref|NP_491020.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004656179	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 4, 2023)	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

SCV004656179

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 4, 2023)

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, SCV004656179.1

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

Description

This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 407 of the GABRB1 protein (p.Pro407Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GABRB1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GABRB1 protein function. 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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