NM_019114.5(EPB41L4B):c.965A>G (p.Lys322Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 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:: RCV004135341.1

Allele description [Variation Report for NM_019114.5(EPB41L4B):c.965A>G (p.Lys322Arg)]

NM_019114.5(EPB41L4B):c.965A>G (p.Lys322Arg)

Gene:

EPB41L4B:erythrocyte membrane protein band 4.1 like 4B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

Preferred name:

NM_019114.5(EPB41L4B):c.965A>G (p.Lys322Arg)

HGVS:

NC_000009.12:g.109255808T>C
NM_001385623.1:c.965A>G
NM_018424.3:c.965A>G
NM_019114.5:c.965A>GMANE SELECT
NP_001372552.1:p.Lys322Arg
NP_060894.2:p.Lys322Arg
NP_061987.3:p.Lys322Arg
NC_000009.11:g.112018088T>C
NM_019114.3:c.965A>G

Protein change:

K322R

Molecular consequence:

NM_001385623.1:c.965A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018424.3:c.965A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019114.5:c.965A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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cytochrome c oxidase subunit I, partial (mitochondrion) [Shinkailepas tollmanni]
cytochrome c oxidase subunit I, partial (mitochondrion) [Shinkailepas tollmanni]
gi|2033774098|dbj|BCG06150.1|

Protein
Mus musculus papilin, proteoglycan-like sulfated glycoprotein (Papln), transcrip...
Mus musculus papilin, proteoglycan-like sulfated glycoprotein (Papln), transcript variant 2, mRNA
gi|329299030|ref|NM_130887.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003614588	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003614588

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 16, 2022)

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, SCV003614588.2

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

Description

The c.965A>G (p.K322R) alteration is located in exon 10 (coding exon 10) of the EPB41L4B gene. This alteration results from a A to G substitution at nucleotide position 965, causing the lysine (K) at amino acid position 322 to be replaced by an arginine (R). 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: Oct 26, 2024

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