NM_015270.5(ADCY6):c.583_585del (p.Met195del) AND Lethal congenital contracture syndrome 8

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 2023
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:: RCV003493264.2

Allele description [Variation Report for NM_015270.5(ADCY6):c.583_585del (p.Met195del)]

NM_015270.5(ADCY6):c.583_585del (p.Met195del)

Gene:

ADCY6:adenylate cyclase 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_015270.5(ADCY6):c.583_585del (p.Met195del)

HGVS:

NC_000012.12:g.48782850_48782852del
NG_042166.1:g.11245_11247del
NG_125601.1:g.341_343del
NM_001390830.1:c.583_585del
NM_001390831.2:c.583_585del
NM_001412819.1:c.583_585del
NM_001412820.1:c.583_585del
NM_001412821.1:c.583_585del
NM_001412822.1:c.583_585del
NM_015270.5:c.583_585delMANE SELECT
NP_001377759.1:p.Met195del
NP_001377760.1:p.Met195del
NP_001399748.1:p.Met195del
NP_001399749.1:p.Met195del
NP_001399750.1:p.Met195del
NP_001399751.1:p.Met195del
NP_056085.1:p.Met195del
NC_000012.11:g.49176633_49176635del
NR_182049.1:n.1387_1389del

Protein change:

M195del

Molecular consequence:

NM_001390830.1:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001390831.2:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001412819.1:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001412820.1:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001412821.1:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001412822.1:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_015270.5:c.583_585del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_182049.1:n.1387_1389del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Lethal congenital contracture syndrome 8 (LCCS8)
Identifiers:: MONDO: MONDO:0014570; MedGen: C4225385; OMIM: 616287

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004238947	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 16, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004238947

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 16, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV004238947.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Mar 16, 2024

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