NM_138352.3(SAMD1):c.663A>C (p.Pro221=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 1, 2024
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:: RCV003406869.10

Allele description [Variation Report for NM_138352.3(SAMD1):c.663A>C (p.Pro221=)]

NM_138352.3(SAMD1):c.663A>C (p.Pro221=)

Gene:

SAMD1:sterile alpha motif domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.12

Genomic location:

Preferred name:

NM_138352.3(SAMD1):c.663A>C (p.Pro221=)

HGVS:

NC_000019.10:g.14090076T>G
NG_029699.1:g.32672A>C
NG_198177.1:g.70T>G
NM_138352.3:c.663A>CMANE SELECT
NP_612361.1:p.Pro221=
NC_000019.9:g.14200888T>G

Molecular consequence:

NM_138352.3:c.663A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Library Collection Development
Library Collection Development
Development of a library collection, including the determination and coordination of selection policy, assessment of needs of users and potential users, collection use studies... Year introduced: 1991

MeSH
Library Administration
Library Administration
Planning, organizing, staffing, direction, and control of libraries. 

MeSH
Library Associations
Library Associations
Organizations of persons and institutions associated with a type of library or region. 

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Book Collecting
Book Collecting
Seeking, locating, acquiring, organizing, cataloging, displaying, storing, and maintaining whatever books are of interest to a given individual collector.... 

MeSH
Carbohydrate Conformation
Carbohydrate Conformation
The characteristic 3-dimensional shape of a carbohydrate. Year introduced: 1980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004140261	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004140261

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Aug 1, 2024)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004140261.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

Description

SAMD1: BP4, BP7

#	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		4	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine