NM_000960.4(PTGIR):c.454G>C (p.Ala152Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 11, 2022
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:: RCV004515661.1

Allele description [Variation Report for NM_000960.4(PTGIR):c.454G>C (p.Ala152Pro)]

NM_000960.4(PTGIR):c.454G>C (p.Ala152Pro)

Gene:

PTGIR:prostaglandin I2 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000960.4(PTGIR):c.454G>C (p.Ala152Pro)

HGVS:

NC_000019.10:g.46623772C>G
NM_000960.4:c.454G>CMANE SELECT
NP_000951.1:p.Ala152Pro
NC_000019.9:g.47127029C>G
NM_000960.3:c.454G>C

Protein change:

A152P

Molecular consequence:

NM_000960.4:c.454G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Myobatrachus gouldii isolate ABTC63391 tRNA-Met gene, partial sequence; and NADH...
Myobatrachus gouldii isolate ABTC63391 tRNA-Met gene, partial sequence; and NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrial
gi|401064981|gb|JX473822.1|

Nucleotide
thymosin beta 4 Y isoform [Homo sapiens]
thymosin beta 4 Y isoform [Homo sapiens]
gi|5870307|gb|AAD54509.1|AC006371_1 WUGSC|H_NH0304C24.1

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005013201	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005013201

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 11, 2022)

germline

clinical testing

Citation Link

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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, SCV005013201.1

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

Description

The c.454G>C (p.A152P) alteration is located in exon 2 (coding exon 1) of the PTGIR gene. This alteration results from a G to C substitution at nucleotide position 454, causing the alanine (A) at amino acid position 152 to be replaced by a proline (P). 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: May 7, 2024

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