NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 31, 2012
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:: RCV000081017.14

Allele description [Variation Report for NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)]

NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)

Gene:

COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)

HGVS:

NC_000002.12:g.237336223AGC[3]
NG_008676.1:g.82976TGC[3]
NM_004369.4:c.8868TGC[3]MANE SELECT
NM_057166.5:c.7047TGC[3]
NM_057167.4:c.8250TGC[3]
NP_004360.2:p.Ala2960del
NP_476507.3:p.Ala2353del
NP_476508.2:p.Ala2754del
LRG_473t1:c.8877_8879del
LRG_473:g.82976TGC[3]
NC_000002.11:g.238244864_238244866del
NC_000002.11:g.238244866AGC[3]
NM_004369.3:c.8877_8879del
NM_004369.3:c.8877_8879delTGC

Protein change:

A2353del

Links:

dbSNP: rs35879189

NCBI 1000 Genomes Browser:

rs35879189

Molecular consequence:

NM_004369.4:c.8868TGC[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_057166.5:c.7047TGC[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_057167.4:c.8250TGC[3] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Rattus norvegicus similar to RIKEN cDNA 0610038D11, mRNA (cDNA clone MGC:188881 ...
Rattus norvegicus similar to RIKEN cDNA 0610038D11, mRNA (cDNA clone MGC:188881 IMAGE:6889581), complete cds
gi|197246787|gb|BC168762.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000112924	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jul 31, 2012)	germline	clinical testing	Citation Link,
SCV000310243	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000112924

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jul 31, 2012)

germline

clinical testing

Citation Link,

SCV000310243

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	21	not provided	not provided	not provided	not provided	clinical 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 Eurofins Ntd Llc (ga), SCV000112924.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	21	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		21	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000310243.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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