NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr) AND Congenital muscular hypertrophy-cerebral syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 8, 2017
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:: RCV000496004.1

Allele description [Variation Report for NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)]

NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)

Gene:

SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)

HGVS:

NC_000023.11:g.53382379A>T
NG_006988.2:g.45292T>A
NM_001281463.1:c.3224T>A
NM_006306.4:c.3290T>AMANE SELECT
NP_001268392.1:p.Phe1075Tyr
NP_006297.2:p.Phe1097Tyr
LRG_773t1:c.3224T>A
LRG_773:g.45292T>A
LRG_773p1:p.Phe1075Tyr
NC_000023.10:g.53409300A>T

Protein change:

F1075Y

Links:

dbSNP: rs1131692271

NCBI 1000 Genomes Browser:

rs1131692271

Molecular consequence:

NM_001281463.1:c.3224T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006306.4:c.3290T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital muscular hypertrophy-cerebral syndrome (CDLS2)
Synonyms:: Cornelia de Lange syndrome 2
Identifiers:: MONDO: MONDO:0010370; MedGen: C1802395; Orphanet: 199; OMIM: 300590

Recent activity

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1-hydroxy-2-naphthoate dioxygenase [Pseudarthrobacter phenanthrenivorans Sphe3]
1-hydroxy-2-naphthoate dioxygenase [Pseudarthrobacter phenanthrenivorans Sphe3]
gi|323469664|gnl|jgi|Asphe3_22020|g 73349.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584061	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha	criteria provided, single submitter (HA_assertions_20150911)	Uncertain significance (Jun 8, 2017)	de novo	research	HA_assertions_20150911.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000584061

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha

criteria provided, single submitter

(HA_assertions_20150911)

Uncertain significance
(Jun 8, 2017)

de novo

research

HA_assertions_20150911.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV000584061.1

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

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

Last Updated: Apr 23, 2022

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