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NC_000019.9:g.(?_49472545)_(49714755_?)del AND Progressive familial heart block type IB

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 2021
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:
RCV003119771.4

Allele description [Variation Report for NC_000019.9:g.(?_49472545)_(49714755_?)del]

NC_000019.9:g.(?_49472545)_(49714755_?)del

Genes:
  • PPFIA3:PTPRF interacting protein alpha 3 [Gene - OMIM - HGNC]
  • RUVBL2:RuvB like AAA ATPase 2 [Gene - OMIM - HGNC]
  • CGB1:chorionic gonadotropin subunit beta 1 [Gene - OMIM - HGNC]
  • CGB2:chorionic gonadotropin subunit beta 2 [Gene - OMIM - HGNC]
  • CGB3:chorionic gonadotropin subunit beta 3 [Gene - OMIM - HGNC]
  • CGB5:chorionic gonadotropin subunit beta 5 [Gene - OMIM - HGNC]
  • CGB7:chorionic gonadotropin subunit beta 7 [Gene - OMIM - HGNC]
  • CGB8:chorionic gonadotropin subunit beta 8 [Gene - OMIM - HGNC]
  • C19orf73:chromosome 19 open reading frame 73 [Gene - HGNC]
  • GYS1:glycogen synthase 1 [Gene - OMIM - HGNC]
  • HRC:histidine rich calcium binding protein [Gene - OMIM - HGNC]
  • LIN7B:lin-7 homolog B, crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • LHB:luteinizing hormone subunit beta [Gene - OMIM - HGNC]
  • NTF4:neurotrophin 4 [Gene - OMIM - HGNC]
  • KCNA7:potassium voltage-gated channel subfamily A member 7 [Gene - OMIM - HGNC]
  • SNRNP70:small nuclear ribonucleoprotein U1 subunit 70 [Gene - OMIM - HGNC]
  • TRPM4:transient receptor potential cation channel subfamily M member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.33
Genomic location:
Chr19: 49472545 - 49714755 (on Assembly GRCh37)
Preferred name:
NC_000019.9:g.(?_49472545)_(49714755_?)del
HGVS:
NC_000019.9:g.(?_49472545)_(49714755_?)del

Condition(s)

Name:
Progressive familial heart block type IB (PFHB1B)
Synonyms:
Progressive familial heart block type 1B
Identifiers:
MONDO: MONDO:0011474; MedGen: C1970298; Orphanet: 871; OMIM: 604559

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003795029Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 9, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV003795029.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TRPM4-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the TRPM4 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPM4 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024