NM_020909.4(EPB41L5):c.2104C>G (p.Pro702Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 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:: RCV004137768.1

Allele description [Variation Report for NM_020909.4(EPB41L5):c.2104C>G (p.Pro702Ala)]

NM_020909.4(EPB41L5):c.2104C>G (p.Pro702Ala)

Gene:

EPB41L5:erythrocyte membrane protein band 4.1 like 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

Preferred name:

NM_020909.4(EPB41L5):c.2104C>G (p.Pro702Ala)

HGVS:

NC_000002.12:g.120167976C>G
NM_001184937.2:c.2004+469C>G
NM_001330310.2:c.2101C>G
NM_020909.4:c.2104C>GMANE SELECT
NP_001317239.1:p.Pro701Ala
NP_065960.2:p.Pro702Ala
NC_000002.11:g.120925552C>G
NM_020909.3:c.2104C>G

Protein change:

P701A

Molecular consequence:

NM_001184937.2:c.2004+469C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330310.2:c.2101C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020909.4:c.2104C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens serine protease 2 (PRSS2), transcript variant 2, mRNA
Homo sapiens serine protease 2 (PRSS2), transcript variant 2, mRNA
gi|744066876|ref|NM_002770.3|

Nucleotide
membrane protein US14 [Human betaherpesvirus 5]
membrane protein US14 [Human betaherpesvirus 5]
gi|52139324|ref|YP_081599.1|

Protein
chemokine vCXCL2 [Human betaherpesvirus 5]
chemokine vCXCL2 [Human betaherpesvirus 5]
gi|52139295|ref|YP_081570.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003614773	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003614773

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 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, SCV003614773.2

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

Description

The c.2104C>G (p.P702A) alteration is located in exon 24 (coding exon 23) of the EPB41L5 gene. This alteration results from a C to G substitution at nucleotide position 2104, causing the proline (P) at amino acid position 702 to be replaced by an alanine (A). 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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