NM_018937.5(PCDHB3):c.843T>A (p.Phe281Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 2021
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:: RCV004100933.1

Allele description [Variation Report for NM_018937.5(PCDHB3):c.843T>A (p.Phe281Leu)]

NM_018937.5(PCDHB3):c.843T>A (p.Phe281Leu)

Genes:

PCDHB3:protocadherin beta 3 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_018937.5(PCDHB3):c.843T>A (p.Phe281Leu)

HGVS:

NC_000005.10:g.141101492T>A
NG_000017.2:g.69628T>A
NM_018937.5:c.843T>AMANE SELECT
NP_061760.2:p.Phe281Leu
NC_000005.9:g.140481076T>A
NM_018937.2:c.843T>A

Protein change:

F281L

Molecular consequence:

NM_018937.5:c.843T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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A validated cgMLST-scheme for Paenibacillus larvae
A validated cgMLST-scheme for Paenibacillus larvae
A standardized reference scheme for cgMLST on P. larvae.

BioProject
AGENCOURT_111903424 NIH_MGC_418 Rattus norvegicus cDNA clone IMAGE:9026565 5', m...
AGENCOURT_111903424 NIH_MGC_418 Rattus norvegicus cDNA clone IMAGE:9026565 5', mRNA sequence
gi|154633927|gnl|dbEST|47752422|gb| 285.1|

Nucleotide
liprin-beta-1 isoform X15 [Rattus norvegicus]
liprin-beta-1 isoform X15 [Rattus norvegicus]
gi|1958769882|ref|XP_038963645.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003574242	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003574242

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 20, 2021)

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, SCV003574242.2

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

Description

The c.843T>A (p.F281L) alteration is located in exon 1 (coding exon 1) of the PCDHB3 gene. This alteration results from a T to A substitution at nucleotide position 843, causing the phenylalanine (F) at amino acid position 281 to be replaced by a leucine (L). 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 10, 2024

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