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NM_080870.4(MUCL3):c.386G>T (p.Gly129Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 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:
RCV004443329.1

Allele description [Variation Report for NM_080870.4(MUCL3):c.386G>T (p.Gly129Val)]

NM_080870.4(MUCL3):c.386G>T (p.Gly129Val)

Genes:
HCG21:HLA complex group 21 [Gene - HGNC]
MUCL3:mucin like 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_080870.4(MUCL3):c.386G>T (p.Gly129Val)
HGVS:
  • NC_000006.12:g.30948850G>T
  • NM_080870.4:c.386G>TMANE SELECT
  • NP_543146.2:p.Gly129Val
  • NC_000006.11:g.30916627G>T
  • NM_080870.3:c.386G>T
Protein change:
G129V
Molecular consequence:
  • NM_080870.4:c.386G>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
SCV004936342Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 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, SCV004936342.1

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

Description

The c.386G>T (p.G129V) alteration is located in exon 2 (coding exon 2) of the DPCR1 gene. This alteration results from a G to T substitution at nucleotide position 386, causing the glycine (G) at amino acid position 129 to be replaced by a valine (V). 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