NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 24, 2018
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:: RCV000677266.3

Allele description [Variation Report for NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)]

NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)

Gene:

KLHL7:kelch like family member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

Preferred name:

NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)

HGVS:

NC_000007.14:g.23165737C>T
NG_016983.2:g.65004C>T
NM_001031710.3:c.976C>TMANE SELECT
NM_018846.5:c.832C>T
NP_001026880.2:p.Arg326Ter
NP_061334.4:p.Arg278Ter
NC_000007.13:g.23205356C>T
NG_016983.1:g.65004C>T
NM_001031710.2:c.976C>T
NR_033328.2:n.1349C>T
p.Arg326*

Protein change:

R278*; ARG326TER

Links:

OMIM: 611119.0011; dbSNP: rs77078070

NCBI 1000 Genomes Browser:

rs77078070

Molecular consequence:

NR_033328.2:n.1349C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001031710.3:c.976C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_018846.5:c.832C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

Unknown function

Condition(s)

Name:: PERCHING syndrome (PERCHING)
Synonyms:: Cold-induced sweating syndrome 3
Identifiers:: MONDO: MONDO:0014890; MedGen: C4310742; Orphanet: 157820; OMIM: 617055

Name:: Bohring-Opitz-like syndrome
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680063	Pediatric Genomics Discovery Program, Yale University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 24, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680063

Pediatric Genomics Discovery Program, Yale University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 24, 2018)

germline

research

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
Hispanic	germline	yes	2	not provided	not provided	2	not provided	research

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 Pediatric Genomics Discovery Program, Yale University, SCV000680063.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	not provided	research	PubMed (1)
2	Hispanic	1	not provided	not provided	research	PubMed (1)

Description

This homozygous variant was identified in two Hispanic siblings who have overlapping features with those previously described as having a phenotype similar to that of Crisponi syndrome (CS)/cold-induced sweating syndrome-1 (Angius et al, 2016; PMID: 27392078) and a Bohring-Opitz syndrome (BOS)-like phenotype (Bruel et al, 2017; PMID: 29074562). Truncating variants in KLHL7 have been reported in both CS-like and BOS-like phenotypes, which share a number of overlapping clinical features.

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

Last Updated: Jun 23, 2024

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