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NM_001077657.3(SMCO1):c.232A>G (p.Ser78Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 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:
RCV004313141.1

Allele description [Variation Report for NM_001077657.3(SMCO1):c.232A>G (p.Ser78Gly)]

NM_001077657.3(SMCO1):c.232A>G (p.Ser78Gly)

Gene:
SMCO1:single-pass membrane protein with coiled-coil domains 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_001077657.3(SMCO1):c.232A>G (p.Ser78Gly)
HGVS:
  • NC_000003.12:g.196508300T>C
  • NG_023425.1:g.469A>G
  • NM_001077657.3:c.232A>GMANE SELECT
  • NM_001320473.2:c.208A>G
  • NP_001071125.1:p.Ser78Gly
  • NP_001307402.1:p.Ser70Gly
  • LRG_185:g.469A>G
  • NC_000003.11:g.196235171T>C
  • NM_001077657.1:c.232A>G
Protein change:
S70G
Molecular consequence:
  • NM_001077657.3:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320473.2:c.208A>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
SCV003974754Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 17, 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, SCV003974754.2

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

Description

The c.232A>G (p.S78G) alteration is located in exon 3 (coding exon 3) of the SMCO1 gene. This alteration results from a A to G substitution at nucleotide position 232, causing the serine (S) at amino acid position 78 to be replaced by a glycine (G). 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: Oct 26, 2024