NM_001098537.3(PNPLA7):c.3212G>A (p.Arg1071Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 22, 2024
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:: RCV004662415.1

Allele description [Variation Report for NM_001098537.3(PNPLA7):c.3212G>A (p.Arg1071Gln)]

NM_001098537.3(PNPLA7):c.3212G>A (p.Arg1071Gln)

Gene:

PNPLA7:patatin like phospholipase domain containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_001098537.3(PNPLA7):c.3212G>A (p.Arg1071Gln)

HGVS:

NC_000009.12:g.137464140C>T
NG_021362.1:g.195G>A
NM_001098537.3:c.3212G>AMANE SELECT
NM_152286.5:c.3137G>A
NP_001092007.2:p.Arg1071Gln
NP_689499.4:p.Arg1046Gln
NC_000009.11:g.140358592C>T
NM_001098537.1:c.3212G>A

Protein change:

R1046Q

Molecular consequence:

NM_001098537.3:c.3212G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152286.5:c.3137G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Eukaryotic translation initiation factor 3 subunit B [Caenorhabditis elegans]
Eukaryotic translation initiation factor 3 subunit B [Caenorhabditis elegans]
gi|453231894|ref|NP_001022469.2|

Protein
Caenorhabditis elegans Bifunctional lysine-specific demethylase and histidyl-hyd...
Caenorhabditis elegans Bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66 (jmjc-1), mRNA
gi|1845970026|ref|NM_001026474.4|

Nucleotide
Nose resistant-to-fluoxetine protein N-terminal domain-containing protein [Caeno...
Nose resistant-to-fluoxetine protein N-terminal domain-containing protein [Caenorhabditis elegans]
gi|212646266|ref|NP_507120.3|

Protein
Chain F, Acid-sensing ion channel
Chain F, Acid-sensing ion channel
gi|158430426|pdb|2QTS|F

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
SCV005148387	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 22, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005148387

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 22, 2024)

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, SCV005148387.1

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

Description

The c.3212G>A (p.R1071Q) alteration is located in exon 28 (coding exon 28) of the PNPLA7 gene. This alteration results from a G to A substitution at nucleotide position 3212, causing the arginine (R) at amino acid position 1071 to be replaced by a glutamine (Q). 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: Aug 11, 2024

ClinVar

Relating variation to medicine