NM_006846.4(SPINK5):c.1607+93_1607+94del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 3, 2015
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:: RCV001670570.2

Allele description [Variation Report for NM_006846.4(SPINK5):c.1607+93_1607+94del]

NM_006846.4(SPINK5):c.1607+93_1607+94del

Gene:

SPINK5:serine peptidase inhibitor Kazal type 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_006846.4(SPINK5):c.1607+93_1607+94del

HGVS:

NC_000005.10:g.148107257_148107258del
NG_009633.1:g.48286_48287del
NM_001127698.2:c.1607+93_1607+94del
NM_001127699.2:c.1607+93_1607+94del
NM_006846.4:c.1607+93_1607+94delMANE SELECT
LRG_110:g.48286_48287del
NC_000005.9:g.147486820_147486821del

Links:

dbSNP: rs3036740

NCBI 1000 Genomes Browser:

rs3036740

Molecular consequence:

NM_001127698.2:c.1607+93_1607+94del - intron variant - [Sequence Ontology: SO:0001627]
NM_001127699.2:c.1607+93_1607+94del - intron variant - [Sequence Ontology: SO:0001627]
NM_006846.4:c.1607+93_1607+94del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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NAC domain containing protein 46 [Arabidopsis thaliana]
NAC domain containing protein 46 [Arabidopsis thaliana]
gi|15229219|ref|NP_187056.1|

Protein
Mus musculus cAMP responsive element binding protein 5 (Creb5), transcript varia...
Mus musculus cAMP responsive element binding protein 5 (Creb5), transcript variant 2, mRNA
gi|141801838|ref|NM_172728.2|

Nucleotide
Gm40331 predicted gene, 40331 [Mus musculus]
Gm40331 predicted gene, 40331 [Mus musculus]
Gene ID:105244779

Gene
Gm40331 AND (alive[prop]) (1)
Gene
COG1 [Chlorocebus sabaeus]
COG1 [Chlorocebus sabaeus]
Gene ID:103243108

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001891692	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001891692

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 3, 2015)

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, SCV001891692.1

#	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

Last Updated: Jun 23, 2024

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