NM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 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:: RCV004191647.1

Allele description [Variation Report for NM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr)]

NM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr)

Gene:

DEFB118:defensin beta 118 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr)

HGVS:

NC_000020.11:g.31372946A>T
NM_054112.3:c.148A>TMANE SELECT
NP_473453.1:p.Asn50Tyr
NC_000020.10:g.29960749A>T
NM_054112.2:c.148A>T

Protein change:

N50Y

Molecular consequence:

NM_054112.3:c.148A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Chain A, Double-stranded RNA-binding protein Staufen homolog 1
Chain A, Double-stranded RNA-binding protein Staufen homolog 1
gi|1519485818|pdb|6HTU|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003687899	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 11, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003687899

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 11, 2021)

germline

clinical testing

Citation Link

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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, SCV003687899.2

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

Description

The c.148A>T (p.N50Y) alteration is located in exon 2 (coding exon 2) of the DEFB118 gene. This alteration results from a A to T substitution at nucleotide position 148, causing the asparagine (N) at amino acid position 50 to be replaced by a tyrosine (Y). 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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