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NM_016604.4(KDM3B):c.72CTCGGC[3] (p.Ala28_Pro29insSerAla) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 7, 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:
RCV002774170.2

Allele description [Variation Report for NM_016604.4(KDM3B):c.72CTCGGC[3] (p.Ala28_Pro29insSerAla)]

NM_016604.4(KDM3B):c.72CTCGGC[3] (p.Ala28_Pro29insSerAla)

Genes:
LOC129994737:ATAC-STARR-seq lymphoblastoid silent region 16394 [Gene]
KDM3B:lysine demethylase 3B [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_016604.4(KDM3B):c.72CTCGGC[3] (p.Ala28_Pro29insSerAla)
HGVS:
  • NC_000005.10:g.138352867CTCGGC[3]
  • NM_016604.4:c.72CTCGGC[3]MANE SELECT
  • NP_057688.3:p.Ala28_Pro29insSerAla
  • NC_000005.9:g.137688556CTCGGC[3]
  • NM_016604.3:c.78_83dupCTCGGC
Molecular consequence:
  • NM_016604.4:c.72CTCGGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003755264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003755264.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.78_83dupCTCGGC (p.S27_A28dup) alteration is located in exon 1 (coding exon 1) of the KDM3B gene. The alteration consists of an in-frame duplication of 6 nucleotides from position 78 to 83, resulting in the duplication of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024