NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) AND not provided

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Sep 30, 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:: RCV001528593.6

Allele description [Variation Report for NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)]

NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)

Genes:

LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)

HGVS:

NC_000003.12:g.10032845A>C
NG_007311.1:g.11417A>C
NG_046754.1:g.1999A>C
NM_001018115.3:c.78A>CMANE SELECT
NM_001319984.2:c.78A>C
NM_001374253.1:c.78A>C
NM_001374254.1:c.78A>C
NM_001374255.1:c.78A>C
NM_033084.4:c.78A>C
NM_033084.6:c.78A>C
NP_001018125.1:p.Gln26His
NP_001306913.1:p.Gln26His
NP_001361182.1:p.Gln26His
NP_001361183.1:p.Gln26His
NP_001361184.1:p.Gln26His
NP_149075.2:p.Gln26His
LRG_306t2:c.78A>C
LRG_306:g.11417A>C
NC_000003.11:g.10074529A>C
NM_001018115.2:c.78A>C
NM_033084.3:c.78A>C

Protein change:

Q26H

Links:

dbSNP: rs45510294

NCBI 1000 Genomes Browser:

rs45510294

Molecular consequence:

NM_001018115.3:c.78A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001319984.2:c.78A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374253.1:c.78A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374254.1:c.78A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374255.1:c.78A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033084.6:c.78A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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W10q13 weight 10 weeks QTL 13 [Mus musculus]
W10q13 weight 10 weeks QTL 13 [Mus musculus]
Gene ID:100035073

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001740566	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001798687	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001809192	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV004040089	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 30, 2023)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740566.3

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

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798687.1

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

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809192.1

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

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

From GeneDx, SCV004040089.1

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 13, 2024

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