NM_003597.5(KLF11):c.914C>T (p.Pro305Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 13, 2019
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:: RCV002254477.2

Allele description [Variation Report for NM_003597.5(KLF11):c.914C>T (p.Pro305Leu)]

NM_003597.5(KLF11):c.914C>T (p.Pro305Leu)

Gene:

KLF11:KLF transcription factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

Preferred name:

NM_003597.5(KLF11):c.914C>T (p.Pro305Leu)

HGVS:

NC_000002.12:g.10048251C>T
NG_017199.1:g.9697C>T
NM_001177716.2:c.863C>T
NM_001177718.2:c.863C>T
NM_003597.5:c.914C>TMANE SELECT
NP_001171187.1:p.Pro288Leu
NP_001171189.1:p.Pro288Leu
NP_003588.1:p.Pro305Leu
NC_000002.11:g.10188378C>T
NM_003597.4:c.914C>T

Protein change:

P288L

Links:

dbSNP: rs772989476

NCBI 1000 Genomes Browser:

rs772989476

Molecular consequence:

NM_001177716.2:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001177718.2:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003597.5:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002525677	Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 13, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002525677

Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 13, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002525677.1

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

Description

The c.914C>T (p.Pro305Leu) variant is located in exon 3 of KLF11. This substitution replaces the proline for leucine at amino acid position 305 of the protein. This variant has not been reported in the literature, the Human Gene Mutation Database (HGMD), or ClinVar database. This variant has been observed in a single individual in the general population (observed in 1 of 249,572 alleles; GnomAD v2.1 chr2:10188378). The nucleotide position is well conserved between species and in silico tools have conflicting predictions about the possible impact of this substitution on protein function (DANN, MutationTaster, SIFT, Provean - damaging; FATHMM, MetaSVM, LRT - tolerated).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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