NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(2);Uncertain significance(1) (Last evaluated: Dec 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000963059.6

Allele description [Variation Report for NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)]

NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)
HGVS:
  • NC_000001.11:g.102889503G>T
  • NG_008033.2:g.223994C>A
  • NM_001190709.2:c.4299C>A
  • NM_001854.4:c.4416C>AMANE SELECT
  • NM_080629.3:c.4452C>A
  • NM_080630.4:c.4068C>A
  • NP_001177638.1:p.Asp1433Glu
  • NP_001845.3:p.Asp1472Glu
  • NP_542196.2:p.Asp1484Glu
  • NP_542197.3:p.Asp1356Glu
  • NC_000001.10:g.103355059G>T
  • NM_001854.3:c.4416C>A
  • NR_134980.2:n.4776C>A
Protein change:
D1356E
Links:
dbSNP: rs55821405
NCBI 1000 Genomes Browser:
rs55821405
Molecular consequence:
  • NM_001190709.2:c.4299C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.4416C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.4452C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080630.4:c.4068C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.4776C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000516874GeneDxcriteria provided, single submitter
Benign
(Jul 25, 2018)
germlineclinical testing

Citation Link,

SCV001110187Invitaecriteria provided, single submitter
Benign
(Dec 2, 2020)
germlineclinical testing

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

SCV001147356CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jun 1, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV000516874.4

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

Description

This variant is associated with the following publications: (PMID: 15922184, 27353947, 24036952)

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

From Invitae, SCV001110187.3

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001147356.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

Support Center