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NM_001611.5(ACP5):c.421T>G (p.Phe141Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 2021
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:
RCV002547727.2

Allele description [Variation Report for NM_001611.5(ACP5):c.421T>G (p.Phe141Val)]

NM_001611.5(ACP5):c.421T>G (p.Phe141Val)

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.421T>G (p.Phe141Val)
HGVS:
  • NC_000019.10:g.11576557A>C
  • NG_028127.1:g.7430T>G
  • NM_001111034.3:c.421T>G
  • NM_001111035.1:c.421T>G
  • NM_001111035.3:c.421T>G
  • NM_001111036.3:c.421T>G
  • NM_001322023.2:c.421T>G
  • NM_001611.5:c.421T>GMANE SELECT
  • NP_001104504.1:p.Phe141Val
  • NP_001104505.1:p.Phe141Val
  • NP_001104506.1:p.Phe141Val
  • NP_001308952.1:p.Phe141Val
  • NP_001602.1:p.Phe141Val
  • LRG_1218t1:c.421T>G
  • LRG_1218:g.7430T>G
  • LRG_1218p1:p.Phe141Val
  • NC_000019.9:g.11687372A>C
Protein change:
F141V
Links:
dbSNP: rs201716955
NCBI 1000 Genomes Browser:
rs201716955
Molecular consequence:
  • NM_001111034.3:c.421T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001111035.3:c.421T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001111036.3:c.421T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322023.2:c.421T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001611.5:c.421T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003738838Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 13, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.

An J, Briggs TA, Dumax-Vorzet A, Alarcón-Riquelme ME, Belot A, Beresford M, Bruce IN, Carvalho C, Chaperot L, Frostegård J, Plumas J, Rice GI, Vyse TJ, Wiedeman A, Crow YJ, Elkon KB.

Arthritis Rheumatol. 2017 Jan;69(1):131-142. doi: 10.1002/art.39810. Epub 2016 Dec 2.

PubMed [citation]
PMID:
27390188

Details of each submission

From Ambry Genetics, SCV003738838.2

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

Description

(An, 2017) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024