NM_207363.3(NCKAP5):c.3161T>C (p.Leu1054Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 2023
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:: RCV004342769.1

Allele description [Variation Report for NM_207363.3(NCKAP5):c.3161T>C (p.Leu1054Pro)]

NM_207363.3(NCKAP5):c.3161T>C (p.Leu1054Pro)

Gene:

NCKAP5:NCK associated protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q21.2

Genomic location:

Preferred name:

NM_207363.3(NCKAP5):c.3161T>C (p.Leu1054Pro)

HGVS:

NC_000002.12:g.132783650A>G
NM_207363.3:c.3161T>CMANE SELECT
NM_207481.4:c.1092+6373T>C
NP_997246.2:p.Leu1054Pro
NC_000002.11:g.133541223A>G
NM_207363.2:c.3161T>C

Protein change:

L1054P

Molecular consequence:

NM_207481.4:c.1092+6373T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_207363.3:c.3161T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

SAMN40121498 (30)
SRA
Glomus sp. 8 SUN-2011 isolate N3_5 18S ribosomal RNA gene, partial sequence; int...
Glomus sp. 8 SUN-2011 isolate N3_5 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|344165651|gb|JF439207.1|

Nucleotide
Ochotona rutila isolate 172 MGF gene, intron
Ochotona rutila isolate 172 MGF gene, intron
gi|2575862897|gb|OM792823.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004069105	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004069105

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 21, 2023)

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, SCV004069105.2

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

Description

The c.3161T>C (p.L1054P) alteration is located in exon 14 (coding exon 12) of the NCKAP5 gene. This alteration results from a T to C substitution at nucleotide position 3161, causing the leucine (L) at amino acid position 1054 to be replaced by a proline (P). 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

ClinVar

Relating variation to medicine