NC_000016.9:g.(?_74678240)_(74695347_?)del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 7, 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:: RCV004582885.2

Allele description [Variation Report for NC_000016.9:g.(?_74678240)_(74695347_?)del]

NC_000016.9:g.(?_74678240)_(74695347_?)del

Gene:: RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 16q23.1
Genomic location:: Chr16: 74678240 - 74695347 (on Assembly GRCh37)
Preferred name:: NC_000016.9:g.(?_74678240)_(74695347_?)del
HGVS:: NC_000016.9:g.(?_74678240)_(74695347_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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TPR repeat-containing protein [Chlorobium phaeobacteroides DSM 266]
TPR repeat-containing protein [Chlorobium phaeobacteroides DSM 266]
gi|119354985|gnl|jgi|Cpha266_1840|g 65856.1|

Protein
Sample from Microcebus murinus 37514
Sample from Microcebus murinus 37514

biosample
inhibitor of nuclear factor kappa-B kinase-interacting protein isoform X2 [Canis...
inhibitor of nuclear factor kappa-B kinase-interacting protein isoform X2 [Canis lupus familiaris]
gi|545524561|ref|XP_005629316.1|

Protein
PREDICTED: Homo sapiens FERM domain containing 5 (FRMD5), transcript variant X2,...
PREDICTED: Homo sapiens FERM domain containing 5 (FRMD5), transcript variant X2, mRNA
gi|2217303042|ref|XM_047433193.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005063966	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 7, 2023)	unknown	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

SCV005063966

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 7, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005063966.1

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

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the RFWD3 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RFWD3 cause disease. This variant has not been reported in the literature in individuals affected with RFWD3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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