NM_000089.3(COL1A2):c.1350+11A>T AND Ehlers-danlos syndrome, arthrochalasia type, 2

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001160979.1

Allele description [Variation Report for NM_000089.3(COL1A2):c.1350+11A>T]

NM_000089.3(COL1A2):c.1350+11A>T

Gene:
COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_000089.3(COL1A2):c.1350+11A>T
HGVS:
  • NC_000007.14:g.94411165A>T
  • NG_007405.1:g.21605A>T
  • NM_000089.3:c.1350+11A>T
  • LRG_2t1:c.1350+11A>T
  • LRG_2:g.21605A>T
  • NC_000007.13:g.94040477A>T
Links:
dbSNP: rs193922160
NCBI 1000 Genomes Browser:
rs193922160
Molecular consequence:
  • NM_000089.3:c.1350+11A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Ehlers-danlos syndrome, arthrochalasia type, 2
Synonyms:
EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0040501; MedGen: CN293783; OMIM: 617821

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001322820Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001322820.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Jun 14, 2021

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