NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 2, 2020
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:: RCV001703857.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)]

NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)

Gene:

DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.31

Genomic location:

Preferred name:

NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)

HGVS:

NC_000014.9:g.101985734A>G
NG_008777.1:g.26207A>G
NM_001376.5:c.1509A>GMANE SELECT
NP_001367.2:p.Gln503=
NC_000014.8:g.102452071A>G
NM_001376.4:c.1509A>G

Links:

dbSNP: rs1057522046

NCBI 1000 Genomes Browser:

rs1057522046

Molecular consequence:

NM_001376.5:c.1509A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MAG: uncultured Pedobacter sp. isolate ERR5385030_bin.4_metawrap_v1.3.0_MAG ERZ1...
MAG: uncultured Pedobacter sp. isolate ERR5385030_bin.4_metawrap_v1.3.0_MAG ERZ12303512_21, whole genome shotgun sequence
gi|2538568998|ref|NZ_CAMLHF01000001 gnl|WGS:NZ_CAMLHF01|ERZ12303512_21

Nucleotide
Pedobacter foliorum strain LMG 31463 NODE_4_length_500428_cov_18.478290, whole g...
Pedobacter foliorum strain LMG 31463 NODE_4_length_500428_cov_18.478290, whole genome shotgun sequence
gi|1850430196|ref|NZ_JABSNU01000000 gnl|WGS:NZ_JABSNU01|NODE_4_length_500428_cov_18.478290

Nucleotide
Pedobacter sp. V48 Contig_10, whole genome shotgun sequence
Pedobacter sp. V48 Contig_10, whole genome shotgun sequence
gi|890838964|ref|NZ_AWRU01000002.1| WGS:NZ_AWRU01|Contig_10

Nucleotide
control_30mins_3
control_30mins_3

biosample
SRX6357949 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000525803	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 2, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000525803

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 2, 2020)

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, SCV000525803.4

#	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: Sep 29, 2024

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