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NM_003008.3(SEMG2):c.106T>A (p.Ser36Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2021
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:
RCV004107160.1

Allele description [Variation Report for NM_003008.3(SEMG2):c.106T>A (p.Ser36Thr)]

NM_003008.3(SEMG2):c.106T>A (p.Ser36Thr)

Gene:
SEMG2:semenogelin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_003008.3(SEMG2):c.106T>A (p.Ser36Thr)
HGVS:
  • NC_000020.11:g.45221738T>A
  • NM_003008.3:c.106T>AMANE SELECT
  • NP_002999.1:p.Ser36Thr
  • NC_000020.10:g.43850379T>A
  • NM_003008.2:c.106T>A
Protein change:
S36T
Molecular consequence:
  • NM_003008.3:c.106T>A - 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
SCV003580858Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 16, 2021) 		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, SCV003580858.2

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

Description

The c.106T>A (p.S36T) alteration is located in exon 2 (coding exon 2) of the SEMG2 gene. This alteration results from a T to A substitution at nucleotide position 106, causing the serine (S) at amino acid position 36 to be replaced by a threonine (T). 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