NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000598106.4

Allele description [Variation Report for NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg)]

NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg)

Genes:

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

Variant type:

Indel

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg)

HGVS:

NC_000005.10:g.34007892_34007893delinsCT
NG_016211.1:g.5223_5224delinsAG
NM_001167595.2:c.127_128delinsAG
NM_014324.6:c.127_128delinsAGMANE SELECT
NM_203382.3:c.127_128delinsAG
NP_001161067.1:p.Val43Arg
NP_055139.4:p.Val43Arg
NP_976316.1:p.Val43Arg
NC_000005.9:g.34007997_34007998delinsCT

Protein change:

V43R

Links:

dbSNP: rs1554006390

NCBI 1000 Genomes Browser:

rs1554006390

Molecular consequence:

NM_001167595.2:c.127_128delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_014324.6:c.127_128delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_203382.3:c.127_128delinsAG - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000707759	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Apr 11, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000707759

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Apr 11, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000707759.2

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

Last Updated: Apr 1, 2023

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