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NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) AND not provided

Germline classification:
Benign/Likely benign (4 submissions)
Last evaluated:
Nov 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000443247.24

Allele description [Variation Report for NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)]

NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)

Gene:
COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
HGVS:
  • NC_000006.12:g.75105234A>G
  • NG_042181.1:g.105674T>C
  • NM_004370.6:c.8237T>CMANE SELECT
  • NM_080645.3:c.4745T>C
  • NP_004361.3:p.Val2746Ala
  • NP_542376.2:p.Val1582Ala
  • NC_000006.11:g.75814950A>G
  • NM_004370.5:c.8237T>C
Protein change:
V1582A
Links:
dbSNP: rs34369939
NCBI 1000 Genomes Browser:
rs34369939
Molecular consequence:
  • NM_004370.6:c.8237T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080645.3:c.4745T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
21

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511024Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely Benign
(Jan 12, 2017)
germlineclinical testing

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

SCV001829500GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Oct 19, 2018)
germlineclinical testing

Citation Link,

SCV002586127CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Nov 1, 2024)
germlineclinical testing

Citation Link,

SCV005222215Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes21not providednot providednot providednot providedclinical testing, not provided

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 Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000511024.1

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

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.008577not providednot provided

From GeneDx, SCV001829500.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV002586127.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided21not providednot providedclinical testingnot provided

Description

COL12A1: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided21not providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005222215.1

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

Last Updated: Dec 22, 2024