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NM_016332.4(MSRB1):c.119C>T (p.Ser40Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 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:
RCV004501166.1

Allele description [Variation Report for NM_016332.4(MSRB1):c.119C>T (p.Ser40Leu)]

NM_016332.4(MSRB1):c.119C>T (p.Ser40Leu)

Gene:
MSRB1:methionine sulfoxide reductase B1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_016332.4(MSRB1):c.119C>T (p.Ser40Leu)
HGVS:
  • NC_000016.10:g.1941342G>A
  • NG_132722.1:g.344G>A
  • NM_001382264.1:c.119C>T
  • NM_001382265.1:c.119C>T
  • NM_016332.4:c.119C>TMANE SELECT
  • NP_001369193.1:p.Ser40Leu
  • NP_001369194.1:p.Ser40Leu
  • NP_057416.1:p.Ser40Leu
  • NC_000016.9:g.1991343G>A
  • NM_016332.2:c.119C>T
Protein change:
S40L
Molecular consequence:
  • NM_001382264.1:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382265.1:c.119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016332.4:c.119C>T - 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
SCV005002763Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 9, 2023) 		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, SCV005002763.1

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

Description

The c.119C>T (p.S40L) alteration is located in exon 2 (coding exon 2) of the MSRB1 gene. This alteration results from a C to T substitution at nucleotide position 119, causing the serine (S) at amino acid position 40 to be replaced by a leucine (L). 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