NM_014324.6(AMACR):c.782T>C (p.Met261Thr) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: May 19, 2016
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:: RCV000224095.9

Allele description [Variation Report for NM_014324.6(AMACR):c.782T>C (p.Met261Thr)]

NM_014324.6(AMACR):c.782T>C (p.Met261Thr)

Genes:

C1QTNF3-AMACR:C1QTNF3-AMACR readthrough (NMD candidate) [Gene - HGNC]
AMACR:alpha-methylacyl-CoA racemase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_014324.6(AMACR):c.782T>C (p.Met261Thr)

HGVS:

NC_000005.10:g.33989460A>G
NG_011691.2:g.216T>C
NG_016211.1:g.23656T>C
NM_001167595.2:c.782T>C
NM_014324.6:c.782T>CMANE SELECT
NM_203382.3:c.*24T>C
NP_001161067.1:p.Met261Thr
NP_055139.4:p.Met261Thr
NC_000005.9:g.33989565A>G
NM_014324.5:c.782T>C
NR_037951.1:n.1138T>C
Q9UHK6:p.Met261Thr

Protein change:

M261T

Links:

UniProtKB: Q9UHK6#VAR_055620; dbSNP: rs3195678

NCBI 1000 Genomes Browser:

rs3195678

Molecular consequence:

NM_203382.3:c.*24T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001167595.2:c.782T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014324.6:c.782T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037951.1:n.1138T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus deoxyribonuclease 1-like 3 (Dnase1l3), mRNA
Mus musculus deoxyribonuclease 1-like 3 (Dnase1l3), mRNA
gi|6681204|ref|NM_007870.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000280985	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (May 19, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000801799	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Benign (Aug 17, 2017)	unknown	clinical testing
SCV005299750	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000280985

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

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(May 19, 2016)

germline

clinical testing

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

SCV000801799

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Benign
(Aug 17, 2017)

unknown

clinical testing

SCV005299750

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	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, SCV000280985.1

#	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	not provided	not provided	not provided	not provided		not provided	0.003924	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801799.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005299750.1

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

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

Last Updated: Sep 29, 2024

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