NM_207308.3(NUP210L):c.4034A>C (p.Lys1345Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 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:: RCV004245809.1

Allele description [Variation Report for NM_207308.3(NUP210L):c.4034A>C (p.Lys1345Thr)]

NM_207308.3(NUP210L):c.4034A>C (p.Lys1345Thr)

Gene:

NUP210L:nucleoporin 210 like [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_207308.3(NUP210L):c.4034A>C (p.Lys1345Thr)

HGVS:

NC_000001.11:g.154025630T>G
NM_001159484.1:c.4034A>C
NM_207308.3:c.4034A>CMANE SELECT
NP_001152956.1:p.Lys1345Thr
NP_997191.2:p.Lys1345Thr
NP_997191.2:p.Lys1345Thr
NC_000001.10:g.153998106T>G
NM_207308.2:c.4034A>C

Protein change:

K1345T

Molecular consequence:

NM_001159484.1:c.4034A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_207308.3:c.4034A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

PREDICTED: Orycteropus afer afer U6 spliceosomal RNA (LOC122152287), ncRNA
PREDICTED: Orycteropus afer afer U6 spliceosomal RNA (LOC122152287), ncRNA
gi|2074163363|ref|XR_006164500.1|

Nucleotide
hypothetical_protein [Candidozyma auris]
hypothetical_protein [Candidozyma auris]
gi|2470626050|ref|XP_054558257.1|

Protein
Homo sapiens strain:(JPT) Japanese in Tokyo HapMap population
Homo sapiens strain:(JPT) Japanese in Tokyo HapMap population
Exome sequencing of (JPT) Japanese in Tokyo, Japan HapMap population

BioProject
Arthrobacter sp. strain ICC63 16S ribosomal RNA gene, partial sequence
Arthrobacter sp. strain ICC63 16S ribosomal RNA gene, partial sequence
gi|1127353247|gb|KY419881.1|

Nucleotide
Sporosarcina sp. strain ICC44 16S ribosomal RNA gene, partial sequence
Sporosarcina sp. strain ICC44 16S ribosomal RNA gene, partial sequence
gi|1127353243|gb|KY419877.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003756499	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003756499

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 1, 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, SCV003756499.2

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

Description

The c.4034A>C (p.K1345T) alteration is located in exon 30 (coding exon 30) of the NUP210L gene. This alteration results from a A to C substitution at nucleotide position 4034, causing the lysine (K) at amino acid position 1345 to be replaced by a threonine (T). 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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