NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter) AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Likely pathogenic (Last evaluated: Aug 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578178.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)]

NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter)
HGVS:
  • NC_000003.12:g.48586983G>A
  • NG_007065.1:g.13270C>T
  • NM_000094.3:c.3265C>T
  • NM_000094.4:c.3265C>TMANE SELECT
  • NP_000085.1:p.Gln1089Ter
  • NP_000085.1:p.Gln1089Ter
  • LRG_286t1:c.3265C>T
  • LRG_286:g.13270C>T
  • LRG_286p1:p.Gln1089Ter
  • NC_000003.11:g.48624416G>A
Protein change:
Q1089*
Links:
dbSNP: rs1553612617
NCBI 1000 Genomes Browser:
rs1553612617
Molecular consequence:
  • NM_000094.3:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000094.4:c.3265C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680021Victorian Clinical Genetics Services,Murdoch Childrens Research Institutecriteria provided, single submitter
Likely pathogenic
(Aug 30, 2017)
paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes21not provided3not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Victorian Clinical Genetics Services,Murdoch Childrens Research Institute, SCV000680021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The NM_000094.3(COL7A1):c.3265C>T heterozygous nonsense variant was identified in exon 24 of COL7A1. This nonsense variant introduces a stop codon at amino acid position 1089, NP_000085.1(COL7A1):p.(Gln1089*). This variant is predicted to result in loss of protein function either through truncation (>50% of the protein, including multiple triple helix repeats) or nonsense-mediated decay. This variant is not present in the gnomAD population database and has not been previously observed in other clinical cases. However, other truncating variants downstream of c.3265C>T in COL7A1 have been reported as pathogenic in individuals with dystrophic epidermolysis bullosa (ClinVar). Based on current information and in association with the NM_000094.3(COL7A1):c.1732C>T nonsense variant, this variant has been classified as LIKELY PATHOGENIC. The presence of these two nonsense variants suggests a possible compound heterozygous mode of inheritance which is consistent with dystrophic epidermolysis bullosa.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes3Bloodnot provided2not provided1not provided

Last Updated: Oct 25, 2021

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