NM_003628.6(PKP4):c.2930C>A (p.Ser977Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 6, 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:: RCV004511337.1

Allele description [Variation Report for NM_003628.6(PKP4):c.2930C>A (p.Ser977Tyr)]

NM_003628.6(PKP4):c.2930C>A (p.Ser977Tyr)

Genes:

PKP4-AS1:PKP4 antisense RNA 1 [Gene - HGNC]
PKP4:plakophilin 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

Preferred name:

NM_003628.6(PKP4):c.2930C>A (p.Ser977Tyr)

HGVS:

NC_000002.12:g.158673682C>A
NM_001005476.4:c.2930C>A
NM_001304969.3:c.2927C>A
NM_001304970.3:c.1901C>A
NM_001377218.1:c.2930C>A
NM_001377219.1:c.2927C>A
NM_001377220.1:c.2927C>A
NM_001377221.1:c.2927C>A
NM_001377222.1:c.2924C>A
NM_001377223.1:c.2924C>A
NM_001377224.1:c.2921C>A
NM_001377225.1:c.2930C>A
NM_001377226.1:c.2927C>A
NM_003628.6:c.2930C>AMANE SELECT
NP_001005476.1:p.Ser977Tyr
NP_001291898.1:p.Ser976Tyr
NP_001291899.1:p.Ser634Tyr
NP_001364147.1:p.Ser977Tyr
NP_001364148.1:p.Ser976Tyr
NP_001364149.1:p.Ser976Tyr
NP_001364150.1:p.Ser976Tyr
NP_001364151.1:p.Ser975Tyr
NP_001364152.1:p.Ser975Tyr
NP_001364153.1:p.Ser974Tyr
NP_001364154.1:p.Ser977Tyr
NP_001364155.1:p.Ser976Tyr
NP_003619.2:p.Ser977Tyr
NC_000002.11:g.159530194C>A
NM_003628.3:c.2930C>A

Protein change:

S634Y

Molecular consequence:

NM_001005476.4:c.2930C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304969.3:c.2927C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304970.3:c.1901C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377218.1:c.2930C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377219.1:c.2927C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377220.1:c.2927C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377221.1:c.2927C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377222.1:c.2924C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377223.1:c.2924C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377224.1:c.2921C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377225.1:c.2930C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377226.1:c.2927C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003628.6:c.2930C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Rattus norvegicus SET domain containing 3, actin N3(tau)-histidine me...
PREDICTED: Rattus norvegicus SET domain containing 3, actin N3(tau)-histidine methyltransferase (Setd3), transcript variant X4, mRNA
gi|2678950998|ref|XM_063261781.1|

Nucleotide
hypothetical protein [Amaricoccus sp.]
hypothetical protein [Amaricoccus sp.]
gi|2648217468|ref|WP_324374889.1|

Protein
cytochrome c [Amaricoccus sp.]
cytochrome c [Amaricoccus sp.]
gi|2648217477|ref|WP_324374898.1|

Protein
phage terminase large subunit family protein, partial [Amaricoccus sp.]
phage terminase large subunit family protein, partial [Amaricoccus sp.]
gi|2648217589|ref|WP_324375010.1|

Protein
C0608C04-3 NIA Mouse Trophoblast Stem Cell cDNA Library (Long) Mus musculus cDNA...
C0608C04-3 NIA Mouse Trophoblast Stem Cell cDNA Library (Long) Mus musculus cDNA clone NIA:C0608C04 IMAGE:30020955 3', mRNA sequence
gi|31531242|gnl|dbEST|18594411|gb|B 33.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005021073	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 6, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005021073

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 6, 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, SCV005021073.1

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

Description

The p.S977Y variant (also known as c.2930C>A), located in coding exon 17 of the PKP4 gene, results from a C to A substitution at nucleotide position 2930. The serine at codon 977 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available 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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