NM_144736.5(NDUFAF7):c.-37del AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 23, 2013
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:: RCV000195656.1

Allele description [Variation Report for NM_144736.5(NDUFAF7):c.-37del]

NM_144736.5(NDUFAF7):c.-37del

Genes:

LOC126806192:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:37458084-37459283 [Gene]
NDUFAF7:NADH:ubiquinone oxidoreductase complex assembly factor 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p22.2

Genomic location:

Preferred name:

NM_144736.5(NDUFAF7):c.-37del

HGVS:

NC_000002.12:g.37231669del
NG_050962.1:g.4929del
NG_053078.1:g.5039del
NM_001083946.2:c.-37del
NM_001350024.2:c.-37del
NM_001350025.2:c.-37del
NM_001350027.2:c.-37del
NM_144736.5:c.-37delMANE SELECT
NC_000002.11:g.37458812del
NM_144736.4:c.-37delA
NR_146401.2:n.12del
NR_146402.2:n.12del
NR_146403.2:n.12del
NR_146404.2:n.12del
NR_146405.2:n.12del
NR_146406.2:n.12del
NR_146407.2:n.12del
NR_146408.2:n.12del
NR_146409.3:n.12del
NR_146410.2:n.12del

Links:

dbSNP: rs145277736

NCBI 1000 Genomes Browser:

rs145277736

Molecular consequence:

NM_001083946.2:c.-37del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350024.2:c.-37del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350025.2:c.-37del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350027.2:c.-37del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_144736.5:c.-37del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_146401.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146402.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146403.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146404.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146405.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146406.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146407.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146408.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146409.3:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146410.2:n.12del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000251837	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Sep 23, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251837

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Sep 23, 2013)

germline

clinical testing

Citation Link

Help

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 GeneDx, SCV000251837.3

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

Description

The variant is found in MITONUC-MITOP panel(s).

#	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: Dec 24, 2023

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