NM_000218.3(KCNQ1):c.1514+37364_1514+38744del AND Silver-Russell syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 6, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001254930.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1514+37364_1514+38744del]

NM_000218.3(KCNQ1):c.1514+37364_1514+38744del

Genes:

KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
LOC106783508:nonconserved acetylation island sequence 52 enhancer [Gene]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000218.3(KCNQ1):c.1514+37364_1514+38744del

HGVS:

NC_000011.10:g.2699445_2700825del
NG_008935.1:g.259455_260835del
NG_016178.2:g.4175_5555del
NG_046092.1:g.1_730del
NM_000218.3:c.1514+37364_1514+38744delMANE SELECT
NM_001406836.1:c.1418+37364_1418+38744del
NM_001406837.1:c.1244+37364_1244+38744del
NM_001406838.1:c.974+37364_974+38744del
NM_181798.2:c.1133+37364_1133+38744del
LRG_1052:g.4175_5555del
LRG_287:g.259455_260835del
NC_000011.9:g.2720675_2722055del

Molecular consequence:

NM_000218.3:c.1514+37364_1514+38744del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406836.1:c.1418+37364_1418+38744del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406837.1:c.1244+37364_1244+38744del - intron variant - [Sequence Ontology: SO:0001627]
NM_001406838.1:c.974+37364_974+38744del - intron variant - [Sequence Ontology: SO:0001627]
NM_181798.2:c.1133+37364_1133+38744del - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

No function

Observations:

Condition(s)

Name:: Silver-Russell syndrome 1 (SRS1)
Identifiers:: MONDO: MONDO:0020796; MedGen: C5393125; Orphanet: 813; OMIM: 180860

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001370549	Institute of Medical Genetics, ASUI Udine	no assertion criteria provided	Pathogenic (Jul 6, 2020)	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001370549

Institute of Medical Genetics, ASUI Udine

no assertion criteria provided

Pathogenic
(Jul 6, 2020)

paternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Medical Genetics, ASUI Udine, SCV001370549.1

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

Last Updated: Oct 14, 2023

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