NM_000791.4(DHFR):c.-442_-434del AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 28, 2020
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:: RCV002257683.1

Allele description [Variation Report for NM_000791.4(DHFR):c.-442_-434del]

NM_000791.4(DHFR):c.-442_-434del

Genes:

DHFR:dihydrofolate reductase [Gene - OMIM - HGNC]
MSH3:mutS homolog 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_000791.4(DHFR):c.-442_-434del

HGVS:

NC_000005.10:g.80654926_80654934del
NC_000005.9:g.79950745_79950753delCCAGCTCCC
NG_016607.2:g.5452_5460del
NG_023304.1:g.5051_5059del
NG_105205.1:g.522_530del
NG_105205.2:g.549_557del
NM_000791.4:c.-442_-434delMANE SELECT
NM_001290354.2:c.-548_-540del
NM_001290357.2:c.-442_-434del
NM_002439.5:c.199_207delMANE SELECT
NP_002430.3:p.64PAP[1]
NC_000005.9:g.79950742_79950750delCCCCCAGCT
NC_000005.9:g.79950745_79950753del
NC_000005.9:g.79950745_79950753del
NC_000005.9:g.79950745_79950753delCCAGCTCCC
NM_000791.3:c.-442_-434delAGCTGGGGG
NM_002439.4:c.199_207del
NM_002439.4:c.199_207delCCAGCTCCC
NR_110936.2:n.53_61del

Links:

dbSNP: rs3045983

NCBI 1000 Genomes Browser:

rs3045983

Molecular consequence:

NM_000791.4:c.-442_-434del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001290354.2:c.-548_-540del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001290357.2:c.-442_-434del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_002439.5:c.199_207del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_110936.2:n.53_61del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002536019	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Apr 28, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002536019

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Apr 28, 2020)

germline

curation

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	curation

Details of each submission

From Sema4, Sema4, SCV002536019.1

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

#	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: Sep 1, 2024

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