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NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 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:
RCV001753592.3

Allele description [Variation Report for NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)]

NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)

Gene:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
HGVS:
  • NC_000009.12:g.134700037C>T
  • NG_008030.1:g.63232C>T
  • NM_000093.5:c.406C>TMANE SELECT
  • NM_001278074.1:c.406C>T
  • NP_000084.3:p.Pro136Ser
  • NP_000084.3:p.Pro136Ser
  • NP_001265003.1:p.Pro136Ser
  • LRG_737t1:c.406C>T
  • LRG_737t2:c.406C>T
  • LRG_737:g.63232C>T
  • LRG_737p1:p.Pro136Ser
  • LRG_737p2:p.Pro136Ser
  • NC_000009.11:g.137591883C>T
  • NM_000093.3:c.406C>T
  • NM_000093.4:c.406C>T
Protein change:
P136S
Links:
dbSNP: rs777625241
NCBI 1000 Genomes Browser:
rs777625241
Molecular consequence:
  • NM_000093.5:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002005047GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 6, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002005047.2

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

Description

Has been reported as a novel variant in an 18 year-old female and her mother with connective tissue features (Posey et al., 2016; SCV000245466.1, ClinVar Variant ID# 209143; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); This variant is associated with the following publications: (PMID: 26633545)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024