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NM_001727.2(BRS3):c.374T>G (p.Phe125Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 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:
RCV004603960.1

Allele description [Variation Report for NM_001727.2(BRS3):c.374T>G (p.Phe125Cys)]

NM_001727.2(BRS3):c.374T>G (p.Phe125Cys)

Gene:
BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001727.2(BRS3):c.374T>G (p.Phe125Cys)
HGVS:
  • NC_000023.11:g.136488488T>G
  • NM_001727.2:c.374T>GMANE SELECT
  • NP_001718.1:p.Phe125Cys
  • NC_000023.10:g.135570647T>G
  • NM_001727.1:c.374T>G
Protein change:
F125C
Molecular consequence:
  • NM_001727.2:c.374T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005101151Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 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, SCV005101151.1

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

Description

The c.374T>G (p.F125C) alteration is located in exon 1 (coding exon 1) of the BRS3 gene. This alteration results from a T to G substitution at nucleotide position 374, causing the phenylalanine (F) at amino acid position 125 to be replaced by a cysteine (C). 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: Aug 11, 2024