NM_153002.3(GPR156):c.2182C>A (p.Pro728Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 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:: RCV004267139.1

Allele description [Variation Report for NM_153002.3(GPR156):c.2182C>A (p.Pro728Thr)]

NM_153002.3(GPR156):c.2182C>A (p.Pro728Thr)

Gene:

GPR156:G protein-coupled receptor 156 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_153002.3(GPR156):c.2182C>A (p.Pro728Thr)

HGVS:

NC_000003.12:g.120167295G>T
NM_001168271.2:c.2170C>A
NM_153002.3:c.2182C>AMANE SELECT
NP_001161743.1:p.Pro724Thr
NP_694547.2:p.Pro728Thr
NC_000003.11:g.119886142G>T
NM_153002.2:c.2182C>A

Protein change:

P724T

Molecular consequence:

NM_001168271.2:c.2170C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_153002.3:c.2182C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Trypanosoma theileri uncharacterized protein (TM35_002791000), partial mRNA
Trypanosoma theileri uncharacterized protein (TM35_002791000), partial mRNA
gi|1624762289|ref|XM_029032073.1|

Nucleotide
Trypanosoma theileri putative alpha tubulin (TM35_002981000), partial mRNA
Trypanosoma theileri putative alpha tubulin (TM35_002981000), partial mRNA
gi|1624762313|ref|XM_029032085.1|

Nucleotide
Trypanosoma theileri putative trans-sialidase (TM35_002931000), partial mRNA
Trypanosoma theileri putative trans-sialidase (TM35_002931000), partial mRNA
gi|1624762309|ref|XM_029032083.1|

Nucleotide
Cylindrobasidium laeve voucher 20211447Cylindrobasidium internal transcribed spa...
Cylindrobasidium laeve voucher 20211447Cylindrobasidium internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2528441390|gb|OR198355.1|

Nucleotide
Cylindrobasidium laeve voucher CLZhao 5051 internal transcribed spacer 1, partia...
Cylindrobasidium laeve voucher CLZhao 5051 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1655412483|gb|MK268881.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003894998	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003894998

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 20, 2023)

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, SCV003894998.2

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

Description

The c.2182C>A (p.P728T) alteration is located in exon 9 (coding exon 9) of the GPR156 gene. This alteration results from a C to A substitution at nucleotide position 2182, causing the proline (P) at amino acid position 728 to be replaced by a threonine (T). 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 3, 2024

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