NM_012448.4(STAT5B):c.2352C>T (p.His784=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (2 submissions)
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:: RCV001702594.2

Allele description

NM_012448.4(STAT5B):c.2352C>T (p.His784=)

Gene:

STAT5B:signal transducer and activator of transcription 5B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_012448.4(STAT5B):c.2352C>T (p.His784=)

HGVS:

NC_000017.11:g.42201750G>A
NG_007271.1:g.79657C>T
NM_012448.4:c.2352C>TMANE SELECT
NP_036580.2:p.His784=
LRG_192:g.79657C>T
NC_000017.10:g.40353768G>A

Links:

dbSNP: rs375173590

NCBI 1000 Genomes Browser:

rs375173590

Molecular consequence:

NM_012448.4:c.2352C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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phosphatidate phosphatase LPIN1 isoform 1 [Homo sapiens]
phosphatidate phosphatase LPIN1 isoform 1 [Homo sapiens]
gi|1154067668|ref|NP_001336128.1|

Protein
Homo sapiens diablo IAP-binding mitochondrial protein (DIABLO), transcript varia...
Homo sapiens diablo IAP-binding mitochondrial protein (DIABLO), transcript variant 2, mRNA; nuclear gene for mitochondrial product
gi|508083039|ref|NM_138930.3|

Nucleotide
AGENCOURT_8109349 Lupski_sympathetic_trunk Homo sapiens cDNA clone IMAGE:6189406...
AGENCOURT_8109349 Lupski_sympathetic_trunk Homo sapiens cDNA clone IMAGE:6189406 5', mRNA sequence
gi|21856024|gnl|dbEST|12862725|gb|B 27.1|

Nucleotide
tRNA-specific adenosine deaminase [Arthrobacter sp. NicSoilB11]
tRNA-specific adenosine deaminase [Arthrobacter sp. NicSoilB11]
gi|2089592547|dbj|BCW77093.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001931438	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001967035	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001931438

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001967035

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931438.1

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967035.1

#	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: Feb 28, 2024

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