NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 17, 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:: RCV003285019.2

Allele description [Variation Report for NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser)]

NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser)

Genes:

PKD1-AS1:PKD1 antisense RNA 1 [Gene - HGNC]
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser)

HGVS:

NC_000016.10:g.2094002C>T
NG_008617.1:g.49219G>A
NM_000296.4:c.10627G>A
NM_001009944.3:c.10630G>AMANE SELECT
NP_000287.4:p.Gly3543Ser
NP_001009944.2:p.Gly3544Ser
NP_001009944.3:p.Gly3544Ser
NC_000016.9:g.2144003C>T
NM_000296.3:c.10627G>A
NM_001009944.2:c.10630G>A

Protein change:

G3543S

Molecular consequence:

NM_000296.4:c.10627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001009944.3:c.10630G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003962013	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003962013

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 17, 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, SCV003962013.2

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

Description

The c.10627G>A (p.G3543S) alteration is located in exon 36 (coding exon 36) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 10627, causing the glycine (G) at amino acid position 3543 to be replaced by a serine (S). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. 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 1, 2024

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