NM_001145715.3(KPNA7):c.1046T>C (p.Leu349Pro) AND Intellectual disability, mild

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 7, 2014
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:: RCV000191103.1

Allele description [Variation Report for NM_001145715.3(KPNA7):c.1046T>C (p.Leu349Pro)]

NM_001145715.3(KPNA7):c.1046T>C (p.Leu349Pro)

Gene:

KPNA7:karyopherin subunit alpha 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_001145715.3(KPNA7):c.1046T>C (p.Leu349Pro)

HGVS:

NC_000007.14:g.99185017A>G
NG_051213.1:g.39401T>C
NM_001145715.3:c.1046T>CMANE SELECT
NP_001139187.1:p.Leu349Pro
NC_000007.13:g.98782640A>G
NM_001145715.1:c.1046T>C

Protein change:

L349P

Links:

dbSNP: rs797045052

NCBI 1000 Genomes Browser:

rs797045052

Molecular consequence:

NM_001145715.3:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Intellectual disability, mild
Identifiers:: MedGen: C0026106; Human Phenotype Ontology: HP:0001256

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245503	Baylor Genetics - Adult_WES	criteria provided, single submitter (Yang et al. 2013)	Uncertain significance (Oct 7, 2014)	paternal	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24088041, 26633545

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245503

Baylor Genetics - Adult_WES

criteria provided, single submitter

(Yang et al. 2013)

Uncertain significance
(Oct 7, 2014)

paternal

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African American,Hispanic Americans	paternal	yes	1	1	not provided	not provided	yes	clinical testing

Citations

PubMed

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]

PMID:: 24088041
PMCID:: PMC4211433

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, et al.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

PubMed [citation]

PMID:: 26633545
PMCID:: PMC4892996

Details of each submission

From Baylor Genetics - Adult_WES, SCV000245503.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African American,Hispanic Americans	1	not provided	yes	clinical testing (GTR000508680.4)	PubMed (2)

Description

This variant was found once in our laboratory in trans with a nonsense variant [R36X] in an 18-year-old male with regression and mild intellectual disability. However, a brother with delays was heterozygous for the nonsense variant and did not carry this variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: Mar 26, 2023

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