NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 17, 2017
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:: RCV000179812.11

Allele description [Variation Report for NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)]

NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)

Gene:

ACP5:acid phosphatase 5, tartrate resistant [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)

HGVS:

NC_000019.10:g.11575174G>A
NG_028127.1:g.8813C>T
NM_001111034.3:c.814C>T
NM_001111035.3:c.814C>T
NM_001111036.3:c.814C>T
NM_001322023.2:c.814C>T
NM_001611.5:c.814C>TMANE SELECT
NP_001104504.1:p.Arg272Cys
NP_001104505.1:p.Arg272Cys
NP_001104506.1:p.Arg272Cys
NP_001308952.1:p.Arg272Cys
NP_001602.1:p.Arg272Cys
LRG_1218t1:c.814C>T
LRG_1218:g.8813C>T
LRG_1218p1:p.Arg272Cys
NC_000019.9:g.11685989G>A
NM_001111035.1:c.814C>T
NM_001111035.2:c.814C>T

Protein change:

R272C

Links:

dbSNP: rs147025508

NCBI 1000 Genomes Browser:

rs147025508

Molecular consequence:

NM_001111034.3:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001111035.3:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001111036.3:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001322023.2:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001611.5:c.814C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000232120	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 1, 2015)	germline	clinical testing	Citation Link,
SCV000864307	Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 17, 2017)	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

SCV000232120

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(May 1, 2015)

germline

clinical testing

Citation Link,

SCV000864307

Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 17, 2017)

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	not provided	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), SCV000232120.5

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital, SCV000864307.1

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

Description

BS1, BS2, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).

#	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: Oct 20, 2024

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