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NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 7, 2015
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:
RCV000414882.4

Allele description [Variation Report for NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)]

NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)

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.6205C>T (p.Arg2069Cys)
HGVS:
  • NC_000003.12:g.48575218G>A
  • NG_007065.1:g.25035C>T
  • NM_000094.4:c.6205C>TMANE SELECT
  • NP_000085.1:p.Arg2069Cys
  • NP_000085.1:p.Arg2069Cys
  • LRG_286t1:c.6205C>T
  • LRG_286:g.25035C>T
  • LRG_286p1:p.Arg2069Cys
  • NC_000003.11:g.48612651G>A
  • NM_000094.3:c.6205C>T
  • Q02388:p.Arg2069Cys
Protein change:
R2069C; ARG2069CYS
Links:
UniProtKB: Q02388#VAR_064996; OMIM: 120120.0041; dbSNP: rs121912855
NCBI 1000 Genomes Browser:
rs121912855
Molecular consequence:
  • NM_000094.4:c.6205C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508
Name:
Abnormality of the dentition
Identifiers:
MedGen: C0262444; Human Phenotype Ontology: HP:0000164
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Abnormal dental enamel morphology
Synonyms:
Abnormality of dental enamel
Identifiers:
MedGen: C4021800; Human Phenotype Ontology: HP:0000682
Name:
Hyperpigmentation of the skin
Synonyms:
Hyperpigmentation
Identifiers:
MONDO: MONDO:0019289; MedGen: C0162834; Human Phenotype Ontology: HP:0000953
Name:
Alopecia of scalp
Identifiers:
MedGen: C0574769; Human Phenotype Ontology: HP:0002293
Name:
Distal muscle weakness
Identifiers:
MedGen: C0427065; Human Phenotype Ontology: HP:0002460
Name:
EMG abnormality
Identifiers:
MedGen: C0476403; Human Phenotype Ontology: HP:0003457
Name:
Decreased body weight
Identifiers:
MedGen: C5574742; Human Phenotype Ontology: HP:0004325
Name:
Scarring alopecia of scalp
Identifiers:
MedGen: C3806301; Human Phenotype Ontology: HP:0004552
Name:
Abnormal blistering of the skin
Identifiers:
MedGen: C2132198; Human Phenotype Ontology: HP:0008066
Name:
Nail dystrophy
Identifiers:
MedGen: C0221260; Human Phenotype Ontology: HP:0008404
Name:
Scarring
Identifiers:
MedGen: C0008767; Human Phenotype Ontology: HP:0100699

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492870Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 7, 2015) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024