NM_005969.4(NAP1L4):c.496A>G (p.Ile166Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 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:: RCV004100053.1

Allele description [Variation Report for NM_005969.4(NAP1L4):c.496A>G (p.Ile166Val)]

NM_005969.4(NAP1L4):c.496A>G (p.Ile166Val)

Gene:

NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_005969.4(NAP1L4):c.496A>G (p.Ile166Val)

HGVS:

NC_000011.10:g.2969841T>C
NM_001369375.1:c.496A>G
NM_001369376.1:c.496A>G
NM_001369377.1:c.496A>G
NM_001369378.1:c.496A>G
NM_001369379.1:c.496A>G
NM_001369380.1:c.496A>G
NM_001369381.1:c.496A>G
NM_001369382.1:c.496A>G
NM_001369383.1:c.496A>G
NM_001369384.1:c.496A>G
NM_001369385.1:c.496A>G
NM_001369386.1:c.496A>G
NM_001369388.1:c.496A>G
NM_005969.4:c.496A>GMANE SELECT
NP_001356304.1:p.Ile166Val
NP_001356305.1:p.Ile166Val
NP_001356306.1:p.Ile166Val
NP_001356307.1:p.Ile166Val
NP_001356308.1:p.Ile166Val
NP_001356309.1:p.Ile166Val
NP_001356310.1:p.Ile166Val
NP_001356311.1:p.Ile166Val
NP_001356312.1:p.Ile166Val
NP_001356313.1:p.Ile166Val
NP_001356314.1:p.Ile166Val
NP_001356315.1:p.Ile166Val
NP_001356317.1:p.Ile166Val
NP_005960.1:p.Ile166Val
NC_000011.9:g.2991071T>C
NM_005969.3:c.496A>G

Protein change:

I166V

Molecular consequence:

NM_001369375.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369376.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369377.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369378.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369379.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369380.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369381.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369382.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369383.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369384.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369385.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369386.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369388.1:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005969.4:c.496A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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MAG: Bacteroidota bacterium isolate J034 k99_1031385, whole genome shotgun seque...
MAG: Bacteroidota bacterium isolate J034 k99_1031385, whole genome shotgun sequence
gi|1498228134|gb|RFGW01000496.1||gn :RFGW01|k99_1031385

Nucleotide
MAG: Bacteroidota bacterium isolate J034 k99_1031106, whole genome shotgun seque...
MAG: Bacteroidota bacterium isolate J034 k99_1031106, whole genome shotgun sequence
gi|1498228162|gb|RFGW01000494.1||gn :RFGW01|k99_1031106

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003570469	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 13, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003570469

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 13, 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, SCV003570469.2

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

Description

The c.496A>G (p.I166V) alteration is located in exon 7 (coding exon 6) of the NAP1L4 gene. This alteration results from a A to G substitution at nucleotide position 496, causing the isoleucine (I) at amino acid position 166 to be replaced by a valine (V). 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 3, 2024

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