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NM_000094.4(COL7A1):c.6216+2T>G AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 3, 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:
RCV003218931.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6216+2T>G]

NM_000094.4(COL7A1):c.6216+2T>G

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.6216+2T>G
HGVS:
  • NC_000003.12:g.48575205A>C
  • NG_007065.1:g.25048T>G
  • NM_000094.4:c.6216+2T>GMANE SELECT
  • LRG_286:g.25048T>G
  • NC_000003.11:g.48612638A>C
Molecular consequence:
  • NM_000094.4:c.6216+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003915024GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 3, 2023) 		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, SCV003915024.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Canonical splice site variant predicted to result in an in-frame deletion of exon 74 which encodes a portion of the critical triple helical region of this protein; Other variants affecting the same splice site (c.6216+1 G>A; c.6216+2 T>C; c.6216+5 G>T) have been reported in the published literature in association with dystrophic epidermolysis bullosa (Rakasiwi et al., 2021; Rossi et al., 2021; Hamada et al., 2008; Komori et al., 2018); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33948473, 33274474, 18207370, 29696689)

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

Last Updated: Jun 10, 2023