NM_138433.5(KLHDC7B):c.2504T>G (p.Val835Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 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:: RCV004205441.1

Allele description [Variation Report for NM_138433.5(KLHDC7B):c.2504T>G (p.Val835Gly)]

NM_138433.5(KLHDC7B):c.2504T>G (p.Val835Gly)

Genes:

LOC130067876:ATAC-STARR-seq lymphoblastoid silent region 13995 [Gene]
KLHDC7B:kelch domain containing 7B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_138433.5(KLHDC7B):c.2504T>G (p.Val835Gly)

HGVS:

NC_000022.11:g.50548747T>G
NM_138433.5:c.2504T>GMANE SELECT
NP_612442.3:p.Val835Gly
NC_000022.10:g.50987176T>G
NM_138433.3:c.581T>G

Protein change:

V835G

Molecular consequence:

NM_138433.5:c.2504T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Rattus norvegicus heterogeneous nuclear ribonucleoprotein D (Hnrnpd), transcript...
Rattus norvegicus heterogeneous nuclear ribonucleoprotein D (Hnrnpd), transcript variant 2, mRNA
gi|127139088|ref|NM_001082539.1|

Nucleotide
MIGS Eukaryotic sample from Russula abietina
MIGS Eukaryotic sample from Russula abietina

biosample
MIGS Eukaryotic sample from Hymenopellis chiangmaiae
MIGS Eukaryotic sample from Hymenopellis chiangmaiae

biosample
MIGS Eukaryotic sample from Boletus sp. MG95
MIGS Eukaryotic sample from Boletus sp. MG95

biosample
MIGS Eukaryotic sample from Thelephora aurantiotincta
MIGS Eukaryotic sample from Thelephora aurantiotincta

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003703970	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003703970

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 12, 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, SCV003703970.2

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

Description

The c.581T>G (p.V194G) alteration is located in exon 1 (coding exon 1) of the KLHDC7B gene. This alteration results from a T to G substitution at nucleotide position 581, causing the valine (V) at amino acid position 194 to be replaced by a glycine (G). 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 3, 2024

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