NM_152924.5(ABHD2):c.179C>G (p.Pro60Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 2023
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:: RCV004261007.1

Allele description [Variation Report for NM_152924.5(ABHD2):c.179C>G (p.Pro60Arg)]

NM_152924.5(ABHD2):c.179C>G (p.Pro60Arg)

Gene:

ABHD2:abhydrolase domain containing 2, acylglycerol lipase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_152924.5(ABHD2):c.179C>G (p.Pro60Arg)

HGVS:

NC_000015.10:g.89116506C>G
NM_001416412.1:c.179C>G
NM_001416413.1:c.179C>G
NM_001416414.1:c.179C>G
NM_001416415.1:c.179C>G
NM_001416416.1:c.179C>G
NM_001416417.1:c.179C>G
NM_001416418.1:c.179C>G
NM_001416419.1:c.179C>G
NM_001416420.1:c.-62+27943C>G
NM_001416421.1:c.179C>G
NM_001416422.1:c.179C>G
NM_001416423.1:c.179C>G
NM_001416424.1:c.179C>G
NM_007011.8:c.179C>G
NM_152924.5:c.179C>GMANE SELECT
NP_001403341.1:p.Pro60Arg
NP_001403342.1:p.Pro60Arg
NP_001403343.1:p.Pro60Arg
NP_001403344.1:p.Pro60Arg
NP_001403345.1:p.Pro60Arg
NP_001403346.1:p.Pro60Arg
NP_001403347.1:p.Pro60Arg
NP_001403348.1:p.Pro60Arg
NP_001403350.1:p.Pro60Arg
NP_001403351.1:p.Pro60Arg
NP_001403352.1:p.Pro60Arg
NP_001403353.1:p.Pro60Arg
NP_008942.3:p.Pro60Arg
NP_690888.1:p.Pro60Arg
NC_000015.9:g.89659737C>G
NM_007011.7:c.179C>G

Protein change:

P60R

Molecular consequence:

NM_001416420.1:c.-62+27943C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001416412.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416413.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416414.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416415.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416416.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416417.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416418.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416419.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416421.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416422.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416423.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001416424.1:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007011.8:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152924.5:c.179C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

asterization australia m[All Fields] (0)
MeSH
OMIM Links for Gene (Select 7067) (2)
OMIM
Chain C, ANTIBODY 17B, LIGHT CHAIN
Chain C, ANTIBODY 17B, LIGHT CHAIN
gi|126031268|pdb|2NY1|C

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003872732	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003872732

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 10, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003872732.2

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

Description

The c.179C>G (p.P60R) alteration is located in exon 7 (coding exon 1) of the ABHD2 gene. This alteration results from a C to G substitution at nucleotide position 179, causing the proline (P) at amino acid position 60 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine