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NM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 13, 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:
RCV004254599.1

Allele description [Variation Report for NM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys)]

NM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys)

Gene:
CCSER2:coiled-coil serine rich protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.1
Genomic location:
Preferred name:
NM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys)
HGVS:
  • NC_000010.11:g.84425863A>G
  • NM_001284240.2:c.1838A>GMANE SELECT
  • NM_001284242.2:c.119A>G
  • NM_001284243.2:c.119A>G
  • NM_001351290.2:c.1838A>G
  • NM_001351292.2:c.1838A>G
  • NM_018999.4:c.1838A>G
  • NP_001271169.1:p.Tyr613Cys
  • NP_001271171.1:p.Tyr40Cys
  • NP_001271172.1:p.Tyr40Cys
  • NP_001338219.1:p.Tyr613Cys
  • NP_001338221.1:p.Tyr613Cys
  • NP_061872.2:p.Tyr613Cys
  • NC_000010.10:g.86185619A>G
  • NM_018999.2:c.1838A>G
Protein change:
Y40C
Molecular consequence:
  • NM_001284240.2:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284242.2:c.119A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284243.2:c.119A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351290.2:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351292.2:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018999.4:c.1838A>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
SCV003865642Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 13, 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, SCV003865642.2

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

Description

The c.1838A>G (p.Y613C) alteration is located in exon 5 (coding exon 4) of the CCSER2 gene. This alteration results from a A to G substitution at nucleotide position 1838, causing the tyrosine (Y) at amino acid position 613 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: Nov 3, 2024